Canonical Allele Identifier: CA386305195

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1169625130
• gnomAD v2: 12-102179990-T-C
• gnomAD v4: 12-101786212-T-C
• MyVariant Identifiers: chr12:g.102179990T>C (hg19) ; chr12:g.101786212T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786212T>C , CM000674.2:g.101786212T>C	GRCh38
NC_000012.11:g.102179990T>C , CM000674.1:g.102179990T>C	GRCh37
NC_000012.10:g.100704121T>C	NCBI36
NG_021243.1:g.49656A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.371A>G MANE Select	ENSP00000299314.7:p.Lys124Arg
ENST00000299314.11:c.371A>G	ENSP00000299314.7:p.Lys124Arg
ENST00000549940.5:c.371A>G	ENSP00000449150.1:p.Lys124Arg
ENST00000550352.1:n.165A>G
ENST00000552681.1:c.5A>G	ENSP00000449217.1:p.Lys2Arg
NM_024312.4:c.371A>G	NP_077288.2:p.Lys124Arg
XM_006719593.2:c.371A>G	XP_006719656.1:p.Lys124Arg
XM_011538731.1:c.290A>G	XP_011537033.1:p.Lys97Arg
XM_006719593.3:c.371A>G	XP_006719656.1:p.Lys124Arg
XM_011538731.2:c.290A>G	XP_011537033.1:p.Lys97Arg
XM_017019961.1:c.155A>G	XP_016875450.1:p.Lys52Arg
XM_017019962.2:c.-980A>G	XP_016875451.1:n.-980A>G
NM_024312.5:c.371A>G MANE Select	NP_077288.2:p.Lys124Arg