Canonical Allele Identifier: CA386301775

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161833C>G (hg19) ; chr12:g.101768055C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768055C>G , CM000674.2:g.101768055C>G	GRCh38
NC_000012.11:g.102161833C>G , CM000674.1:g.102161833C>G	GRCh37
NC_000012.10:g.100685964C>G	NCBI36
NG_021243.1:g.67813G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1390G>C MANE Select	ENSP00000299314.7:p.Asp464His
ENST00000299314.11:c.1390G>C	ENSP00000299314.7:p.Asp464His
ENST00000549940.5:c.1390G>C	ENSP00000449150.1:p.Asp464His
ENST00000552009.1:n.49G>C
NM_024312.4:c.1390G>C	NP_077288.2:p.Asp464His
XM_006719593.2:c.1390G>C	XP_006719656.1:p.Asp464His
XM_011538731.1:c.1309G>C	XP_011537033.1:p.Asp437His
XM_006719593.3:c.1390G>C	XP_006719656.1:p.Asp464His
XM_011538731.2:c.1309G>C	XP_011537033.1:p.Asp437His
XM_017019961.1:c.1174G>C	XP_016875450.1:p.Asp392His
XM_017019962.2:c.163G>C	XP_016875451.1:p.Asp55His
NM_024312.5:c.1390G>C MANE Select	NP_077288.2:p.Asp464His