Canonical Allele Identifier: CA386302018

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1953121624
• gnomAD v3: 12-101768127-C-T
• gnomAD v4: 12-101768127-C-T
• COSMIC: COSM1746677 ; COSM3931474
• MyVariant Identifiers: chr12:g.102161905C>T (hg19) ; chr12:g.101768127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768127C>T , CM000674.2:g.101768127C>T	GRCh38
NC_000012.11:g.102161905C>T , CM000674.1:g.102161905C>T	GRCh37
NC_000012.10:g.100686036C>T	NCBI36
NG_021243.1:g.67741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1318G>A MANE Select	ENSP00000299314.7:p.Glu440Lys
ENST00000299314.11:c.1318G>A	ENSP00000299314.7:p.Glu440Lys
ENST00000549940.5:c.1318G>A	ENSP00000449150.1:p.Glu440Lys
NM_024312.4:c.1318G>A	NP_077288.2:p.Glu440Lys
XM_006719593.2:c.1318G>A	XP_006719656.1:p.Glu440Lys
XM_011538731.1:c.1237G>A	XP_011537033.1:p.Glu413Lys
XM_006719593.3:c.1318G>A	XP_006719656.1:p.Glu440Lys
XM_011538731.2:c.1237G>A	XP_011537033.1:p.Glu413Lys
XM_017019961.1:c.1102G>A	XP_016875450.1:p.Glu368Lys
XM_017019962.2:c.91G>A	XP_016875451.1:p.Glu31Lys
NM_024312.5:c.1318G>A MANE Select	NP_077288.2:p.Glu440Lys