Canonical Allele Identifier: CA607597892

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1468896674
• gnomAD v2: 12-102147108-C-T
• gnomAD v3: 12-101753330-C-T
• gnomAD v4: 12-101753330-C-T
• MyVariant Identifiers: chr12:g.102147108C>T (hg19) ; chr12:g.101753330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753330C>T , CM000674.2:g.101753330C>T	GRCh38
NC_000012.11:g.102147108C>T , CM000674.1:g.102147108C>T	GRCh37
NC_000012.10:g.100671239C>T	NCBI36
NG_021243.1:g.82538G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3602+42G>A MANE Select	ENSP00000299314.7:n.3602+42G>A
ENST00000299314.11:c.3602+42G>A	ENSP00000299314.7:n.3602+42G>A
ENST00000549738.5:c.500+42G>A	ENSP00000450161.1:n.500+42G>A
NM_024312.4:c.3602+42G>A	NP_077288.2:n.3602+42G>A
XM_011538731.1:c.3521+42G>A	XP_011537033.1:n.3521+42G>A
XM_011538731.2:c.3521+42G>A	XP_011537033.1:n.3521+42G>A
XM_017019961.1:c.3386+42G>A	XP_016875450.1:n.3386+42G>A
XM_017019962.2:c.2375+42G>A	XP_016875451.1:n.2375+42G>A
NM_024312.5:c.3602+42G>A MANE Select	NP_077288.2:n.3602+42G>A