Canonical Allele Identifier: CA2058953089

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761628G= , CM000674.2:g.101761628G=	GRCh38
NC_000012.11:g.102155406G= , CM000674.1:g.102155406G=	GRCh37
NC_000012.10:g.100679537G=	NCBI36
NG_021243.1:g.74240C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2851C= MANE Select	ENSP00000299314.7:p.Arg951=
ENST00000299314.11:c.2851C=	ENSP00000299314.7:p.Arg951=
NM_024312.4:c.2851C=	NP_077288.2:p.Arg951=
XM_006719593.2:c.2851C=	XP_006719656.1:p.Arg951=
XM_011538731.1:c.2770C=	XP_011537033.1:p.Arg924=
XM_006719593.3:c.2851C=	XP_006719656.1:p.Arg951=
XM_011538731.2:c.2770C=	XP_011537033.1:p.Arg924=
XM_017019961.1:c.2635C=	XP_016875450.1:p.Arg879=
XM_017019962.2:c.1624C=	XP_016875451.1:p.Arg542=
NM_024312.5:c.2851C= MANE Select	NP_077288.2:p.Arg951=