Canonical Allele Identifier: CA2058956968

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768046C= , CM000674.2:g.101768046C=	GRCh38
NC_000012.11:g.102161824C= , CM000674.1:g.102161824C=	GRCh37
NC_000012.10:g.100685955C=	NCBI36
NG_021243.1:g.67822G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1399G= MANE Select	ENSP00000299314.7:p.Asp467=
ENST00000299314.11:c.1399G=	ENSP00000299314.7:p.Asp467=
ENST00000549940.5:c.1399G=	ENSP00000449150.1:p.Asp467=
ENST00000552009.1:n.58G=
NM_024312.4:c.1399G=	NP_077288.2:p.Asp467=
XM_006719593.2:c.1399G=	XP_006719656.1:p.Asp467=
XM_011538731.1:c.1318G=	XP_011537033.1:p.Asp440=
XM_006719593.3:c.1399G=	XP_006719656.1:p.Asp467=
XM_011538731.2:c.1318G=	XP_011537033.1:p.Asp440=
XM_017019961.1:c.1183G=	XP_016875450.1:p.Asp395=
XM_017019962.2:c.172G=	XP_016875451.1:p.Asp58=
NM_024312.5:c.1399G= MANE Select	NP_077288.2:p.Asp467=