Canonical Allele Identifier: CA386292601

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1487651519
• gnomAD v2: 12-102147262-C-A
• gnomAD v4: 12-101753484-C-A
• MyVariant Identifiers: chr12:g.102147262C>A (hg19) ; chr12:g.101753484C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753484C>A , CM000674.2:g.101753484C>A	GRCh38
NC_000012.11:g.102147262C>A , CM000674.1:g.102147262C>A	GRCh37
NC_000012.10:g.100671393C>A	NCBI36
NG_021243.1:g.82384G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3490G>T MANE Select	ENSP00000299314.7:p.Val1164Leu
ENST00000299314.11:c.3490G>T	ENSP00000299314.7:p.Val1164Leu
ENST00000549738.5:c.388G>T	ENSP00000450161.1:n.388G>T
NM_024312.4:c.3490G>T	NP_077288.2:p.Val1164Leu
XM_011538731.1:c.3409G>T	XP_011537033.1:p.Val1137Leu
XM_011538731.2:c.3409G>T	XP_011537033.1:p.Val1137Leu
XM_017019961.1:c.3274G>T	XP_016875450.1:p.Val1092Leu
XM_017019962.2:c.2263G>T	XP_016875451.1:p.Val755Leu
NM_024312.5:c.3490G>T MANE Select	NP_077288.2:p.Val1164Leu