Canonical Allele Identifier: CA408701145

Gene: GSS

Linked Data

• gnomAD v4: 20-34932011-C-G
• MyVariant Identifiers: chr20:g.33519814C>G (hg19) ; chr20:g.34932011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932011C>G , CM000682.2:g.34932011C>G	GRCh38
NC_000020.10:g.33519814C>G , CM000682.1:g.33519814C>G	GRCh37
NC_000020.9:g.32983475C>G	NCBI36
NG_008848.1:g.28788G>C
NG_008848.2:g.29017G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.957G>C	ENSP00000493631.1:p.Met319Ile
ENST00000642538.1:c.*301G>C	ENSP00000493927.1:n.*301G>C
ENST00000643188.1:c.957G>C	ENSP00000493903.1:p.Met319Ile
ENST00000643443.1:c.*664G>C	ENSP00000495572.1:n.*664G>C
ENST00000643502.1:c.614G>C
ENST00000643908.1:n.1175G>C
ENST00000644538.1:n.1234G>C
ENST00000644793.1:c.957G>C	ENSP00000495750.1:p.Met319Ile
ENST00000645328.1:c.335G>C
ENST00000645408.1:c.490G>C
ENST00000645723.1:n.2196G>C
ENST00000646405.1:c.*375G>C	ENSP00000493744.1:n.*375G>C
ENST00000646512.1:n.1103G>C
ENST00000646735.1:c.624G>C	ENSP00000493763.1:p.Met208Ile
ENST00000651619.1:c.957G>C MANE Select	ENSP00000498303.1:p.Met319Ile
ENST00000216951.6:c.957G>C	ENSP00000216951.2:p.Met319Ile
ENST00000451957.2:c.624G>C	ENSP00000407517.2:p.Met208Ile
NM_000178.2:c.957G>C	NP_000169.1:p.Met319Ile
XM_005260406.3:c.957G>C	XP_005260463.1:p.Met319Ile
XM_011528796.1:c.957G>C	XP_011527098.1:p.Met319Ile
NM_000178.4:c.957G>C MANE Select	NP_000169.1:p.Met319Ile
NM_001322494.1:c.957G>C	NP_001309423.1:p.Met319Ile
NM_001322495.1:c.957G>C	NP_001309424.1:p.Met319Ile