Canonical Allele Identifier: CA510290447

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519813A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932010A>G , CM000682.2:g.34932010A>G	GRCh38
NC_000020.10:g.33519813A>G , CM000682.1:g.33519813A>G	GRCh37
NC_000020.9:g.32983474A>G	NCBI36
NG_008848.1:g.28789T>C
NG_008848.2:g.29018T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.958T>C	ENSP00000493631.1:p.Leu320=
ENST00000642538.1:c.*302T>C	ENSP00000493927.1:n.*302T>C
ENST00000643188.1:c.958T>C	ENSP00000493903.1:p.Leu320=
ENST00000643443.1:c.*665T>C	ENSP00000495572.1:n.*665T>C
ENST00000643502.1:c.615T>C
ENST00000643908.1:n.1176T>C
ENST00000644538.1:n.1235T>C
ENST00000644793.1:c.958T>C	ENSP00000495750.1:p.Leu320=
ENST00000645328.1:c.336T>C
ENST00000645408.1:c.491T>C
ENST00000645723.1:n.2197T>C
ENST00000646405.1:c.*376T>C	ENSP00000493744.1:n.*376T>C
ENST00000646512.1:n.1104T>C
ENST00000646735.1:c.625T>C	ENSP00000493763.1:p.Leu209=
ENST00000651619.1:c.958T>C MANE Select	ENSP00000498303.1:p.Leu320=
ENST00000216951.6:c.958T>C	ENSP00000216951.2:p.Leu320=
ENST00000451957.2:c.625T>C	ENSP00000407517.2:p.Leu209=
NM_000178.2:c.958T>C	NP_000169.1:p.Leu320=
XM_005260406.3:c.958T>C	XP_005260463.1:p.Leu320=
XM_011528796.1:c.958T>C	XP_011527098.1:p.Leu320=
NM_000178.4:c.958T>C MANE Select	NP_000169.1:p.Leu320=
NM_001322494.1:c.958T>C	NP_001309423.1:p.Leu320=
NM_001322495.1:c.958T>C	NP_001309424.1:p.Leu320=