Canonical Allele Identifier: CA386294939

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 3100690
• ClinVar RCV Id: RCV004395567
• gnomAD v4: 12-101760134-C-G
• MyVariant Identifiers: chr12:g.102153912C>G (hg19) ; chr12:g.101760134C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760134C>G , CM000674.2:g.101760134C>G	GRCh38
NC_000012.11:g.102153912C>G , CM000674.1:g.102153912C>G	GRCh37
NC_000012.10:g.100678043C>G	NCBI36
NG_021243.1:g.75734G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3145G>C MANE Select	ENSP00000299314.7:p.Gly1049Arg
ENST00000299314.11:c.3145G>C	ENSP00000299314.7:p.Gly1049Arg
ENST00000549194.1:n.11G>C
NM_024312.4:c.3145G>C	NP_077288.2:p.Gly1049Arg
XM_006719593.2:c.3145G>C	XP_006719656.1:p.Gly1049Arg
XM_011538731.1:c.3064G>C	XP_011537033.1:p.Gly1022Arg
XM_006719593.3:c.3145G>C	XP_006719656.1:p.Gly1049Arg
XM_011538731.2:c.3064G>C	XP_011537033.1:p.Gly1022Arg
XM_017019961.1:c.2929G>C	XP_016875450.1:p.Gly977Arg
XM_017019962.2:c.1918G>C	XP_016875451.1:p.Gly640Arg
NM_024312.5:c.3145G>C MANE Select	NP_077288.2:p.Gly1049Arg