Canonical Allele Identifier: CA481576854

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761755-C-T
• MyVariant Identifiers: chr12:g.102155533C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761755C>T , CM000674.2:g.101761755C>T	GRCh38
NC_000012.11:g.102155533C>T , CM000674.1:g.102155533C>T	GRCh37
NC_000012.10:g.100679664C>T	NCBI36
NG_021243.1:g.74113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2724G>A MANE Select	ENSP00000299314.7:p.Glu908=
ENST00000299314.11:c.2724G>A	ENSP00000299314.7:p.Glu908=
NM_024312.4:c.2724G>A	NP_077288.2:p.Glu908=
XM_006719593.2:c.2724G>A	XP_006719656.1:p.Glu908=
XM_011538731.1:c.2643G>A	XP_011537033.1:p.Glu881=
XM_006719593.3:c.2724G>A	XP_006719656.1:p.Glu908=
XM_011538731.2:c.2643G>A	XP_011537033.1:p.Glu881=
XM_017019961.1:c.2508G>A	XP_016875450.1:p.Glu836=
XM_017019962.2:c.1497G>A	XP_016875451.1:p.Glu499=
NM_024312.5:c.2724G>A MANE Select	NP_077288.2:p.Glu908=