Canonical Allele Identifier: CA2652576619

Gene: GSS

Linked Data

• gnomAD v4: 20-34942388-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34942388A>G , CM000682.2:g.34942388A>G	GRCh38
NC_000020.10:g.33530191A>G , CM000682.1:g.33530191A>G	GRCh37
NC_000020.9:g.32993852A>G	NCBI36
NG_008848.1:g.18411T>C
NG_008848.2:g.18640T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*198+100T>C	ENSP00000493524.1:n.*198+100T>C
ENST00000642498.1:c.491+100T>C	ENSP00000493631.1:n.491+100T>C
ENST00000642538.1:c.351+543T>C	ENSP00000493927.1:n.351+543T>C
ENST00000643188.1:c.491+100T>C	ENSP00000493903.1:n.491+100T>C
ENST00000643443.1:c.*198+100T>C	ENSP00000495572.1:n.*198+100T>C
ENST00000643502.1:c.148+100T>C
ENST00000643908.1:n.854+100T>C
ENST00000644538.1:n.768+100T>C
ENST00000644793.1:c.491+100T>C	ENSP00000495750.1:n.491+100T>C
ENST00000645408.1:c.91+100T>C
ENST00000645723.1:n.1730+100T>C
ENST00000646405.1:c.351+543T>C	ENSP00000493744.1:n.351+543T>C
ENST00000646497.1:n.438+100T>C
ENST00000646502.1:n.973+100T>C
ENST00000646512.1:n.704+100T>C
ENST00000646735.1:c.275+3565T>C	ENSP00000493763.1:n.275+3565T>C
ENST00000646766.1:c.*121+100T>C	ENSP00000494333.1:n.*121+100T>C
ENST00000651619.1:c.491+100T>C MANE Select	ENSP00000498303.1:n.491+100T>C
ENST00000216951.6:c.491+100T>C	ENSP00000216951.2:n.491+100T>C
ENST00000451957.2:c.275+3565T>C	ENSP00000407517.2:n.275+3565T>C
NM_000178.2:c.491+100T>C	NP_000169.1:n.491+100T>C
XM_005260406.3:c.491+100T>C	XP_005260463.1:n.491+100T>C
XM_011528796.1:c.491+100T>C	XP_011527098.1:n.491+100T>C
NM_000178.4:c.491+100T>C MANE Select	NP_000169.1:n.491+100T>C
NM_001322494.1:c.491+100T>C	NP_001309423.1:n.491+100T>C
NM_001322495.1:c.491+100T>C	NP_001309424.1:n.491+100T>C