Canonical Allele Identifier: CA2620445301

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101785840-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785840C>A , CM000674.2:g.101785840C>A	GRCh38
NC_000012.11:g.102179618C>A , CM000674.1:g.102179618C>A	GRCh37
NC_000012.10:g.100703749C>A	NCBI36
NG_021243.1:g.50028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+172G>T MANE Select	ENSP00000299314.7:n.571+172G>T
ENST00000299314.11:c.571+172G>T	ENSP00000299314.7:n.571+172G>T
ENST00000549940.5:c.571+172G>T	ENSP00000449150.1:n.571+172G>T
ENST00000550352.1:n.537G>T
ENST00000552681.1:c.205+172G>T	ENSP00000449217.1:n.205+172G>T
NM_024312.4:c.571+172G>T	NP_077288.2:n.571+172G>T
XM_006719593.2:c.571+172G>T	XP_006719656.1:n.571+172G>T
XM_011538731.1:c.490+172G>T	XP_011537033.1:n.490+172G>T
XM_006719593.3:c.571+172G>T	XP_006719656.1:n.571+172G>T
XM_011538731.2:c.490+172G>T	XP_011537033.1:n.490+172G>T
XM_017019961.1:c.355+172G>T	XP_016875450.1:n.355+172G>T
XM_017019962.2:c.-780+172G>T	XP_016875451.1:n.-780+172G>T
NM_024312.5:c.571+172G>T MANE Select	NP_077288.2:n.571+172G>T