Canonical Allele Identifier: CA2620444458

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101770606-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770606A>G , CM000674.2:g.101770606A>G	GRCh38
NC_000012.11:g.102164384A>G , CM000674.1:g.102164384A>G	GRCh37
NC_000012.10:g.100688515A>G	NCBI36
NG_021243.1:g.65262T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.934-21T>C MANE Select	ENSP00000299314.7:n.934-21T>C
ENST00000299314.11:c.934-21T>C	ENSP00000299314.7:n.934-21T>C
ENST00000549940.5:c.934-21T>C	ENSP00000449150.1:n.934-21T>C
NM_024312.4:c.934-21T>C	NP_077288.2:n.934-21T>C
XM_006719593.2:c.934-21T>C	XP_006719656.1:n.934-21T>C
XM_011538731.1:c.853-21T>C	XP_011537033.1:n.853-21T>C
XM_006719593.3:c.934-21T>C	XP_006719656.1:n.934-21T>C
XM_011538731.2:c.853-21T>C	XP_011537033.1:n.853-21T>C
XM_017019961.1:c.718-21T>C	XP_016875450.1:n.718-21T>C
XM_017019962.2:c.-315T>C	XP_016875451.1:n.-315T>C
NM_024312.5:c.934-21T>C MANE Select	NP_077288.2:n.934-21T>C