Canonical Allele Identifier: CA408701181

Gene: GSS

Linked Data

• COSMIC: COSM275398
• MyVariant Identifiers: chr20:g.33519831G>A (hg19) ; chr20:g.34932028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932028G>A , CM000682.2:g.34932028G>A	GRCh38
NC_000020.10:g.33519831G>A , CM000682.1:g.33519831G>A	GRCh37
NC_000020.9:g.32983492G>A	NCBI36
NG_008848.1:g.28771C>T
NG_008848.2:g.29000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*580C>T	ENSP00000493524.1:n.*580C>T
ENST00000642498.1:c.940C>T	ENSP00000493631.1:p.Pro314Ser
ENST00000642538.1:c.*284C>T	ENSP00000493927.1:n.*284C>T
ENST00000643188.1:c.940C>T	ENSP00000493903.1:p.Pro314Ser
ENST00000643443.1:c.*647C>T	ENSP00000495572.1:n.*647C>T
ENST00000643502.1:c.597C>T
ENST00000643908.1:n.1158C>T
ENST00000644538.1:n.1217C>T
ENST00000644793.1:c.940C>T	ENSP00000495750.1:p.Pro314Ser
ENST00000645328.1:c.318C>T
ENST00000645408.1:c.473C>T
ENST00000645723.1:n.2179C>T
ENST00000646405.1:c.*358C>T	ENSP00000493744.1:n.*358C>T
ENST00000646497.1:n.885C>T
ENST00000646512.1:n.1086C>T
ENST00000646735.1:c.607C>T	ENSP00000493763.1:p.Pro203Ser
ENST00000651619.1:c.940C>T MANE Select	ENSP00000498303.1:p.Pro314Ser
ENST00000216951.6:c.940C>T	ENSP00000216951.2:p.Pro314Ser
ENST00000451957.2:c.607C>T	ENSP00000407517.2:p.Pro203Ser
NM_000178.2:c.940C>T	NP_000169.1:p.Pro314Ser
XM_005260406.3:c.940C>T	XP_005260463.1:p.Pro314Ser
XM_011528796.1:c.940C>T	XP_011527098.1:p.Pro314Ser
NM_000178.4:c.940C>T MANE Select	NP_000169.1:p.Pro314Ser
NM_001322494.1:c.940C>T	NP_001309423.1:p.Pro314Ser
NM_001322495.1:c.940C>T	NP_001309424.1:p.Pro314Ser