Canonical Allele Identifier: CA2058955562

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764823T= , CM000674.2:g.101764823T=	GRCh38
NC_000012.11:g.102158601T= , CM000674.1:g.102158601T=	GRCh37
NC_000012.10:g.100682732T=	NCBI36
NG_021243.1:g.71045A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2094A= MANE Select	ENSP00000299314.7:p.Val698=
ENST00000299314.11:c.2094A=	ENSP00000299314.7:p.Val698=
NM_024312.4:c.2094A=	NP_077288.2:p.Val698=
XM_006719593.2:c.2094A=	XP_006719656.1:p.Val698=
XM_011538731.1:c.2013A=	XP_011537033.1:p.Val671=
XM_006719593.3:c.2094A=	XP_006719656.1:p.Val698=
XM_011538731.2:c.2013A=	XP_011537033.1:p.Val671=
XM_017019961.1:c.1878A=	XP_016875450.1:p.Val626=
XM_017019962.2:c.867A=	XP_016875451.1:p.Val289=
NM_024312.5:c.2094A= MANE Select	NP_077288.2:p.Val698=