Canonical Allele Identifier: CA408702865

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34936994T>G , CM000682.2:g.34936994T>G	GRCh38
NC_000020.10:g.33524797T>G , CM000682.1:g.33524797T>G	GRCh37
NC_000020.9:g.32988458T>G	NCBI36
NG_008848.1:g.23805A>C
NG_008848.2:g.24034A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000178.4:c.638A>C MANE Select	NP_000169.1:p.Lys213Thr
ENST00000651619.1:c.638A>C MANE Select	ENSP00000498303.1:p.Lys213Thr
NM_000178.2:c.638A>C	NP_000169.1:p.Lys213Thr
NM_001322494.1:c.638A>C	NP_001309423.1:p.Lys213Thr
NM_001322495.1:c.638A>C	NP_001309424.1:p.Lys213Thr
ENST00000216951.6:c.638A>C	ENSP00000216951.2:p.Lys213Thr
ENST00000451957.2:c.305A>C	ENSP00000407517.2:p.Lys102Thr
ENST00000642493.1:c.*345A>C	ENSP00000493524.1:n.*345A>C
ENST00000642498.1:c.638A>C	ENSP00000493631.1:p.Lys213Thr
ENST00000642538.1:c.381A>C	ENSP00000493927.1:p.Glu127Asp
ENST00000643188.1:c.638A>C	ENSP00000493903.1:p.Lys213Thr
ENST00000643443.1:c.*345A>C	ENSP00000495572.1:n.*345A>C
ENST00000643502.1:c.295A>C
ENST00000643908.1:n.1001A>C
ENST00000644538.1:n.915A>C
ENST00000644793.1:c.638A>C	ENSP00000495750.1:p.Lys213Thr
ENST00000645328.1:c.16A>C
ENST00000645408.1:c.238A>C
ENST00000645723.1:n.1877A>C
ENST00000646405.1:c.*123A>C	ENSP00000493744.1:n.*123A>C
ENST00000646497.1:n.585A>C
ENST00000646502.1:n.1120A>C
ENST00000646512.1:n.851A>C
ENST00000646735.1:c.305A>C	ENSP00000493763.1:p.Lys102Thr
ENST00000646766.1:c.*268A>C	ENSP00000494333.1:n.*268A>C
XM_005260406.3:c.638A>C	XP_005260463.1:p.Lys213Thr
XM_011528796.1:c.638A>C	XP_011527098.1:p.Lys213Thr