Canonical Allele Identifier: CA510290450

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519820C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932017C>A , CM000682.2:g.34932017C>A	GRCh38
NC_000020.10:g.33519820C>A , CM000682.1:g.33519820C>A	GRCh37
NC_000020.9:g.32983481C>A	NCBI36
NG_008848.1:g.28782G>T
NG_008848.2:g.29011G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.951G>T	ENSP00000493631.1:p.Leu317=
ENST00000642538.1:c.*295G>T	ENSP00000493927.1:n.*295G>T
ENST00000643188.1:c.951G>T	ENSP00000493903.1:p.Leu317=
ENST00000643443.1:c.*658G>T	ENSP00000495572.1:n.*658G>T
ENST00000643502.1:c.608G>T
ENST00000643908.1:n.1169G>T
ENST00000644538.1:n.1228G>T
ENST00000644793.1:c.951G>T	ENSP00000495750.1:p.Leu317=
ENST00000645328.1:c.329G>T
ENST00000645408.1:c.484G>T
ENST00000645723.1:n.2190G>T
ENST00000646405.1:c.*369G>T	ENSP00000493744.1:n.*369G>T
ENST00000646497.1:n.896G>T
ENST00000646512.1:n.1097G>T
ENST00000646735.1:c.618G>T	ENSP00000493763.1:p.Leu206=
ENST00000651619.1:c.951G>T MANE Select	ENSP00000498303.1:p.Leu317=
ENST00000216951.6:c.951G>T	ENSP00000216951.2:p.Leu317=
ENST00000451957.2:c.618G>T	ENSP00000407517.2:p.Leu206=
NM_000178.2:c.951G>T	NP_000169.1:p.Leu317=
XM_005260406.3:c.951G>T	XP_005260463.1:p.Leu317=
XM_011528796.1:c.951G>T	XP_011527098.1:p.Leu317=
NM_000178.4:c.951G>T MANE Select	NP_000169.1:p.Leu317=
NM_001322494.1:c.951G>T	NP_001309423.1:p.Leu317=
NM_001322495.1:c.951G>T	NP_001309424.1:p.Leu317=