Canonical Allele Identifier: CA408701140

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519812A>G (hg19) ; chr20:g.34932009A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932009A>G , CM000682.2:g.34932009A>G	GRCh38
NC_000020.10:g.33519812A>G , CM000682.1:g.33519812A>G	GRCh37
NC_000020.9:g.32983473A>G	NCBI36
NG_008848.1:g.28790T>C
NG_008848.2:g.29019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.959T>C	ENSP00000493631.1:p.Leu320Ser
ENST00000642538.1:c.*303T>C	ENSP00000493927.1:n.*303T>C
ENST00000643188.1:c.959T>C	ENSP00000493903.1:p.Leu320Ser
ENST00000643443.1:c.*666T>C	ENSP00000495572.1:n.*666T>C
ENST00000643502.1:c.616T>C
ENST00000643908.1:n.1177T>C
ENST00000644538.1:n.1236T>C
ENST00000644793.1:c.959T>C	ENSP00000495750.1:p.Leu320Ser
ENST00000645328.1:c.337T>C
ENST00000645408.1:c.492T>C
ENST00000645723.1:n.2198T>C
ENST00000646405.1:c.*377T>C	ENSP00000493744.1:n.*377T>C
ENST00000646512.1:n.1105T>C
ENST00000646735.1:c.626T>C	ENSP00000493763.1:p.Leu209Ser
ENST00000651619.1:c.959T>C MANE Select	ENSP00000498303.1:p.Leu320Ser
ENST00000216951.6:c.959T>C	ENSP00000216951.2:p.Leu320Ser
ENST00000451957.2:c.626T>C	ENSP00000407517.2:p.Leu209Ser
NM_000178.2:c.959T>C	NP_000169.1:p.Leu320Ser
XM_005260406.3:c.959T>C	XP_005260463.1:p.Leu320Ser
XM_011528796.1:c.959T>C	XP_011527098.1:p.Leu320Ser
NM_000178.4:c.959T>C MANE Select	NP_000169.1:p.Leu320Ser
NM_001322494.1:c.959T>C	NP_001309423.1:p.Leu320Ser
NM_001322495.1:c.959T>C	NP_001309424.1:p.Leu320Ser