Canonical Allele Identifier: CA481576850

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155527C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761749C>T , CM000674.2:g.101761749C>T	GRCh38
NC_000012.11:g.102155527C>T , CM000674.1:g.102155527C>T	GRCh37
NC_000012.10:g.100679658C>T	NCBI36
NG_021243.1:g.74119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2730G>A MANE Select	ENSP00000299314.7:p.Leu910=
ENST00000299314.11:c.2730G>A	ENSP00000299314.7:p.Leu910=
NM_024312.4:c.2730G>A	NP_077288.2:p.Leu910=
XM_006719593.2:c.2730G>A	XP_006719656.1:p.Leu910=
XM_011538731.1:c.2649G>A	XP_011537033.1:p.Leu883=
XM_006719593.3:c.2730G>A	XP_006719656.1:p.Leu910=
XM_011538731.2:c.2649G>A	XP_011537033.1:p.Leu883=
XM_017019961.1:c.2514G>A	XP_016875450.1:p.Leu838=
XM_017019962.2:c.1503G>A	XP_016875451.1:p.Leu501=
NM_024312.5:c.2730G>A MANE Select	NP_077288.2:p.Leu910=