Canonical Allele Identifier: CA2058950583

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753484C= , CM000674.2:g.101753484C=	GRCh38
NC_000012.11:g.102147262C= , CM000674.1:g.102147262C=	GRCh37
NC_000012.10:g.100671393C=	NCBI36
NG_021243.1:g.82384G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3490G= MANE Select	ENSP00000299314.7:p.Val1164=
ENST00000299314.11:c.3490G=	ENSP00000299314.7:p.Val1164=
ENST00000549738.5:c.388G=	ENSP00000450161.1:n.388G=
NM_024312.4:c.3490G=	NP_077288.2:p.Val1164=
XM_011538731.1:c.3409G=	XP_011537033.1:p.Val1137=
XM_011538731.2:c.3409G=	XP_011537033.1:p.Val1137=
XM_017019961.1:c.3274G=	XP_016875450.1:p.Val1092=
XM_017019962.2:c.2263G=	XP_016875451.1:p.Val755=
NM_024312.5:c.3490G= MANE Select	NP_077288.2:p.Val1164=