Canonical Allele Identifier: CA2575265180

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1211336713
• gnomAD v3: 12-101785928-G-T
• gnomAD v4: 12-101785928-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785928G>T , CM000674.2:g.101785928G>T	GRCh38
NC_000012.11:g.102179706G>T , CM000674.1:g.102179706G>T	GRCh37
NC_000012.10:g.100703837G>T	NCBI36
NG_021243.1:g.49940C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+84C>A MANE Select	ENSP00000299314.7:n.571+84C>A
ENST00000299314.11:c.571+84C>A	ENSP00000299314.7:n.571+84C>A
ENST00000549940.5:c.571+84C>A	ENSP00000449150.1:n.571+84C>A
ENST00000550352.1:n.449C>A
ENST00000552681.1:c.205+84C>A	ENSP00000449217.1:n.205+84C>A
NM_024312.4:c.571+84C>A	NP_077288.2:n.571+84C>A
XM_006719593.2:c.571+84C>A	XP_006719656.1:n.571+84C>A
XM_011538731.1:c.490+84C>A	XP_011537033.1:n.490+84C>A
XM_006719593.3:c.571+84C>A	XP_006719656.1:n.571+84C>A
XM_011538731.2:c.490+84C>A	XP_011537033.1:n.490+84C>A
XM_017019961.1:c.355+84C>A	XP_016875450.1:n.355+84C>A
XM_017019962.2:c.-780+84C>A	XP_016875451.1:n.-780+84C>A
NM_024312.5:c.571+84C>A MANE Select	NP_077288.2:n.571+84C>A