Canonical Allele Identifier: CA481320358

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101768047-C-T
• MyVariant Identifiers: chr12:g.102161825C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768047C>T , CM000674.2:g.101768047C>T	GRCh38
NC_000012.11:g.102161825C>T , CM000674.1:g.102161825C>T	GRCh37
NC_000012.10:g.100685956C>T	NCBI36
NG_021243.1:g.67821G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1398G>A MANE Select	ENSP00000299314.7:p.Gly466=
ENST00000299314.11:c.1398G>A	ENSP00000299314.7:p.Gly466=
ENST00000549940.5:c.1398G>A	ENSP00000449150.1:p.Gly466=
ENST00000552009.1:n.57G>A
NM_024312.4:c.1398G>A	NP_077288.2:p.Gly466=
XM_006719593.2:c.1398G>A	XP_006719656.1:p.Gly466=
XM_011538731.1:c.1317G>A	XP_011537033.1:p.Gly439=
XM_006719593.3:c.1398G>A	XP_006719656.1:p.Gly466=
XM_011538731.2:c.1317G>A	XP_011537033.1:p.Gly439=
XM_017019961.1:c.1182G>A	XP_016875450.1:p.Gly394=
XM_017019962.2:c.171G>A	XP_016875451.1:p.Gly57=
NM_024312.5:c.1398G>A MANE Select	NP_077288.2:p.Gly466=