Canonical Allele Identifier: CA951152302

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1953122739
• gnomAD v3: 12-101768205-A-C
• gnomAD v4: 12-101768205-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768205A>C , CM000674.2:g.101768205A>C	GRCh38
NC_000012.11:g.102161983A>C , CM000674.1:g.102161983A>C	GRCh37
NC_000012.10:g.100686114A>C	NCBI36
NG_021243.1:g.67663T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1285-45T>G MANE Select	ENSP00000299314.7:n.1285-45T>G
ENST00000299314.11:c.1285-45T>G	ENSP00000299314.7:n.1285-45T>G
ENST00000549940.5:c.1285-45T>G	ENSP00000449150.1:n.1285-45T>G
NM_024312.4:c.1285-45T>G	NP_077288.2:n.1285-45T>G
XM_006719593.2:c.1285-45T>G	XP_006719656.1:n.1285-45T>G
XM_011538731.1:c.1204-45T>G	XP_011537033.1:n.1204-45T>G
XM_006719593.3:c.1285-45T>G	XP_006719656.1:n.1285-45T>G
XM_011538731.2:c.1204-45T>G	XP_011537033.1:n.1204-45T>G
XM_017019961.1:c.1069-45T>G	XP_016875450.1:n.1069-45T>G
XM_017019962.2:c.58-45T>G	XP_016875451.1:n.58-45T>G
NM_024312.5:c.1285-45T>G MANE Select	NP_077288.2:n.1285-45T>G