Canonical Allele Identifier: CA5220636

Gene: GSN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121286183T>C , CM000671.2:g.121286183T>C	GRCh38
NC_000009.11:g.124048461T>C , CM000671.1:g.124048461T>C	GRCh37
NC_000009.10:g.123088282T>C	NCBI36
NG_012872.1:g.23082T>C
NG_012872.2:g.90102T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699558.1:c.-48+4621T>C	ENSP00000514432.1:n.-48+4621T>C
ENST00000373808.8:c.-48+4621T>C	ENSP00000362914.3:n.-48+4621T>C
ENST00000432226.7:c.-10+4621T>C MANE Select	ENSP00000404226.2:n.-10+4621T>C
ENST00000449733.7:c.99+3633T>C	ENSP00000409358.2:n.99+3633T>C
ENST00000341272.6:c.-10+4621T>C	ENSP00000340888.2:n.-10+4621T>C
ENST00000373808.6:c.-9-15780T>C	ENSP00000362914.2:n.-9-15780T>C
ENST00000373823.7:c.-10+4621T>C	ENSP00000362929.2:n.-10+4621T>C
ENST00000394353.7:c.40T>C	ENSP00000377882.3:p.Trp14Arg
ENST00000412819.5:c.-10+4230T>C	ENSP00000416586.1:n.-10+4230T>C
ENST00000432226.5:c.-10+4621T>C	ENSP00000404226.1:n.-10+4621T>C
ENST00000436847.5:c.-48+4621T>C	ENSP00000411293.1:n.-48+4621T>C
ENST00000449733.5:c.99+3633T>C	ENSP00000409358.2:n.99+3633T>C
ENST00000449773.5:c.-48+4621T>C	ENSP00000410657.1:n.-48+4621T>C
ENST00000475428.6:n.164+3633T>C
ENST00000477104.2:c.-50T>C	ENSP00000489067.1:n.-50T>C
ENST00000477863.5:n.58-15780T>C
ENST00000483960.5:n.277+2791T>C
NM_001127662.1:c.-9-15780T>C	NP_001121134.1:n.-9-15780T>C
NM_001127663.1:c.99+3633T>C	NP_001121135.2:n.99+3633T>C
NM_001127664.1:c.-10+4230T>C	NP_001121136.1:n.-10+4230T>C
NM_001127665.1:c.-10+2791T>C	NP_001121137.1:n.-10+2791T>C
NM_001127666.1:c.-48+4621T>C	NP_001121138.1:n.-48+4621T>C
NM_001127667.1:c.-39+4621T>C	NP_001121139.1:n.-39+4621T>C
NM_001258029.1:c.40T>C	NP_001244958.1:p.Trp14Arg
NM_198252.2:c.-10+4621T>C	NP_937895.1:n.-10+4621T>C
XM_005251945.3:c.-49+4621T>C	XP_005252002.1:n.-49+4621T>C
XM_006717079.1:c.-50T>C	XP_006717142.1:n.-50T>C
XM_011518584.1:c.99+3633T>C	XP_011516886.1:n.99+3633T>C
XM_011518585.1:c.40T>C	XP_011516887.1:p.Trp14Arg
XM_011518586.1:c.-39+3633T>C	XP_011516888.1:n.-39+3633T>C
XM_011518587.1:c.-48+3633T>C	XP_011516889.1:n.-48+3633T>C
XM_011518588.1:c.-48+2791T>C	XP_011516890.1:n.-48+2791T>C
XM_011518589.1:c.-39+4230T>C	XP_011516891.1:n.-39+4230T>C
XM_011518590.1:c.-48+4621T>C	XP_011516892.1:n.-48+4621T>C
XM_011518591.1:c.-10+4621T>C	XP_011516893.1:n.-10+4621T>C
XM_011518592.1:c.-10+4621T>C	XP_011516894.1:n.-10+4621T>C
XM_011518593.1:c.-10+2791T>C	XP_011516895.1:n.-10+2791T>C
NM_001353053.1:c.-10+4621T>C	NP_001339982.1:n.-10+4621T>C
NM_001353054.1:c.-10+4621T>C	NP_001339983.1:n.-10+4621T>C
NM_001353055.1:c.-49+4621T>C	NP_001339984.1:n.-49+4621T>C
NM_001353056.1:c.-2+3633T>C	NP_001339985.1:n.-2+3633T>C
NM_001353057.1:c.-2+4621T>C	NP_001339986.1:n.-2+4621T>C
NM_001353058.1:c.-2+4621T>C	NP_001339987.1:n.-2+4621T>C
NM_001353059.1:c.-2+3633T>C	NP_001339988.1:n.-2+3633T>C
NM_001353060.1:c.-10+4621T>C	NP_001339989.1:n.-10+4621T>C
NM_001353061.1:c.-10+4621T>C	NP_001339990.1:n.-10+4621T>C
NM_001353062.1:c.-10+4621T>C	NP_001339991.1:n.-10+4621T>C
NM_001353063.1:c.-38-13882T>C	NP_001339992.1:n.-38-13882T>C
NM_001353064.1:c.-48+4621T>C	NP_001339993.1:n.-48+4621T>C
NM_001353065.1:c.-39+4230T>C	NP_001339994.1:n.-39+4230T>C
NM_001353066.1:c.-48+4621T>C	NP_001339995.1:n.-48+4621T>C
NM_001353067.1:c.-47-13873T>C	NP_001339996.1:n.-47-13873T>C
NM_001353068.1:c.-39+3633T>C	NP_001339997.1:n.-39+3633T>C
NM_001353069.1:c.-50T>C	NP_001339998.1:n.-50T>C
NM_001353070.1:c.-33+4621T>C	NP_001339999.1:n.-33+4621T>C
NM_001353071.1:c.-207-419T>C	NP_001340000.1:n.-207-419T>C
NM_001353072.1:c.-48+3633T>C	NP_001340001.1:n.-48+3633T>C
NM_001353073.1:c.-39+3633T>C	NP_001340002.1:n.-39+3633T>C
NM_001353074.1:c.-48+2791T>C	NP_001340003.1:n.-48+2791T>C
NM_001353076.1:c.-48+4621T>C	NP_001340005.1:n.-48+4621T>C
NM_001353078.1:c.-459+4621T>C	NP_001340007.1:n.-459+4621T>C
XM_017014645.1:c.-148T>C	XP_016870134.1:n.-148T>C
XM_017014648.1:c.-39+4621T>C	XP_016870137.1:n.-39+4621T>C
XM_024447522.1:c.99+3633T>C	XP_024303290.1:n.99+3633T>C
XM_024447523.1:c.-10+4621T>C	XP_024303291.1:n.-10+4621T>C
XM_024447524.1:c.-10+4621T>C	XP_024303292.1:n.-10+4621T>C
NM_001127662.2:c.-9-15780T>C	NP_001121134.1:n.-9-15780T>C
NM_001127663.2:c.99+3633T>C	NP_001121135.2:n.99+3633T>C
NM_001127664.2:c.-10+4230T>C	NP_001121136.1:n.-10+4230T>C
NM_001127665.2:c.-10+2791T>C	NP_001121137.1:n.-10+2791T>C
NM_001127666.2:c.-48+4621T>C	NP_001121138.1:n.-48+4621T>C
NM_001127667.2:c.-39+4621T>C	NP_001121139.1:n.-39+4621T>C
NM_001258029.2:c.40T>C	NP_001244958.1:p.Trp14Arg
NM_001353055.2:c.-49+4621T>C	NP_001339984.1:n.-49+4621T>C
NM_001353056.2:c.-2+3633T>C	NP_001339985.1:n.-2+3633T>C
NM_001353057.2:c.-2+4621T>C	NP_001339986.1:n.-2+4621T>C
NM_001353058.2:c.-2+4621T>C	NP_001339987.1:n.-2+4621T>C
NM_001353059.2:c.-2+3633T>C	NP_001339988.1:n.-2+3633T>C
NM_001353060.2:c.-10+4621T>C	NP_001339989.1:n.-10+4621T>C
NM_001353061.2:c.-10+4621T>C	NP_001339990.1:n.-10+4621T>C
NM_001353063.2:c.-38-13882T>C	NP_001339992.1:n.-38-13882T>C
NM_001353064.2:c.-48+4621T>C	NP_001339993.1:n.-48+4621T>C
NM_001353065.2:c.-39+4230T>C	NP_001339994.1:n.-39+4230T>C
NM_001353066.2:c.-48+4621T>C	NP_001339995.1:n.-48+4621T>C
NM_001353067.2:c.-47-13873T>C	NP_001339996.1:n.-47-13873T>C
NM_001353068.2:c.-39+3633T>C	NP_001339997.1:n.-39+3633T>C
NM_001353069.2:c.-50T>C	NP_001339998.1:n.-50T>C
NM_001353070.2:c.-33+4621T>C	NP_001339999.1:n.-33+4621T>C
NM_001353071.2:c.-207-419T>C	NP_001340000.1:n.-207-419T>C
NM_001353072.2:c.-48+3633T>C	NP_001340001.1:n.-48+3633T>C
NM_001353073.2:c.-39+3633T>C	NP_001340002.1:n.-39+3633T>C
NM_001353074.2:c.-48+2791T>C	NP_001340003.1:n.-48+2791T>C
NM_001353076.2:c.-48+4621T>C	NP_001340005.1:n.-48+4621T>C
NM_001353078.2:c.-459+4621T>C	NP_001340007.1:n.-459+4621T>C
NM_198252.3:c.-10+4621T>C MANE Select	NP_937895.1:n.-10+4621T>C