Canonical Allele Identifier: CA514615595

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760925T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364921T>C , CM000684.2:g.40364921T>C	GRCh38
NC_000022.10:g.40760925T>C , CM000684.1:g.40760925T>C	GRCh37
NC_000022.9:g.39090871T>C	NCBI36
NG_007993.1:g.23422T>C
NG_007993.2:g.23422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*627T>C	ENSP00000485462.2:n.*627T>C
ENST00000623287.4:c.*658T>C	ENSP00000485437.1:n.*658T>C
ENST00000623632.4:c.924T>C	ENSP00000485288.2:p.Ala308=
ENST00000625194.4:c.1275T>C	ENSP00000485289.2:p.Ala425=
ENST00000636433.1:n.1255T>C
ENST00000636714.1:c.1233T>C	ENSP00000490946.1:p.Ala411=
ENST00000637666.2:c.1191+556T>C	ENSP00000489696.2:n.1191+556T>C
ENST00000637669.1:c.1233T>C	ENSP00000489728.1:p.Ala411=
ENST00000639722.1:c.*929T>C	ENSP00000492828.1:n.*929T>C
ENST00000674592.1:n.2747T>C
ENST00000675622.1:n.4300T>C
ENST00000679609.1:c.*843T>C	ENSP00000506592.1:n.*843T>C
ENST00000679656.1:n.1918T>C
ENST00000679723.1:c.1188T>C	ENSP00000505155.1:p.Ala396=
ENST00000679845.1:n.1541T>C
ENST00000679904.1:n.1629T>C
ENST00000680378.1:c.1320T>C	ENSP00000505556.1:p.Ala440=
ENST00000680444.1:c.*596T>C	ENSP00000505298.1:n.*596T>C
ENST00000680978.1:c.1233T>C	ENSP00000505244.1:p.Ala411=
ENST00000681003.1:n.696T>C
ENST00000681159.1:n.2637T>C
ENST00000216194.11:c.1275T>C	ENSP00000216194.8:p.Ala425=
ENST00000342312.9:c.1191+556T>C	ENSP00000341429.6:n.1191+556T>C
ENST00000623063.3:c.1233T>C MANE Select	ENSP00000485525.1:p.Ala411=
ENST00000623387.1:n.364T>C
ENST00000625194.3:c.862T>C
NM_000026.2:c.1233T>C	NP_000017.1:p.Ala411=
NM_001123378.1:c.1191+556T>C	NP_001116850.1:n.1191+556T>C
XM_011529976.1:c.1233T>C	XP_011528278.1:p.Ala411=
XM_011529977.1:c.1233T>C	XP_011528279.1:p.Ala411=
XM_011529978.1:c.1191+556T>C	XP_011528280.1:n.1191+556T>C
XM_011529979.1:c.1233T>C	XP_011528281.1:p.Ala411=
XM_011529980.1:c.1191+556T>C	XP_011528282.1:n.1191+556T>C
XM_011529981.1:c.768T>C	XP_011528283.1:p.Ala256=
XM_011529982.1:c.402T>C	XP_011528284.1:p.Ala134=
XR_937824.1:n.1323T>C
XR_937825.1:n.1281+556T>C
NM_000026.3:c.1233T>C	NP_000017.1:p.Ala411=
NM_001123378.2:c.1191+556T>C	NP_001116850.1:n.1191+556T>C
NM_001317923.1:c.1041T>C	NP_001304852.1:p.Ala347=
NM_001363840.1:c.1233T>C	NP_001350769.1:p.Ala411=
NR_134256.1:n.1323T>C
XM_011529977.3:c.1233T>C	XP_011528279.1:p.Ala411=
XM_011529980.3:c.1191+556T>C	XP_011528282.1:n.1191+556T>C
XM_017028636.1:c.1188T>C	XP_016884125.1:p.Ala396=
XM_017028637.1:c.1188T>C	XP_016884126.1:p.Ala396=
XM_017028638.1:c.768T>C	XP_016884127.1:p.Ala256=
XM_017028639.2:c.768T>C	XP_016884128.1:p.Ala256=
XM_017028640.1:c.402T>C	XP_016884129.1:p.Ala134=
XM_024452166.1:c.1146+556T>C	XP_024307934.1:n.1146+556T>C
XR_001755176.2:n.1475T>C
XR_002958670.1:n.1260T>C
XR_937825.3:n.1279+556T>C
NM_000026.4:c.1233T>C MANE Select	NP_000017.1:p.Ala411=
NM_001363840.2:c.1233T>C	NP_001350769.1:p.Ala411=
NM_001123378.3:c.1191+556T>C	NP_001116850.1:n.1191+556T>C
NM_001317923.2:c.1041T>C	NP_001304852.1:p.Ala347=
NM_001363840.3:c.1233T>C	NP_001350769.1:p.Ala411=
NR_134256.2:n.1323T>C