Canonical Allele Identifier: CA2058964813

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786083A= , CM000674.2:g.101786083A=	GRCh38
NC_000012.11:g.102179861A= , CM000674.1:g.102179861A=	GRCh37
NC_000012.10:g.100703992A=	NCBI36
NG_021243.1:g.49785T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.500T= MANE Select	ENSP00000299314.7:p.Ile167=
ENST00000299314.11:c.500T=	ENSP00000299314.7:p.Ile167=
ENST00000549940.5:c.500T=	ENSP00000449150.1:p.Ile167=
ENST00000550352.1:n.294T=
ENST00000552681.1:c.134T=	ENSP00000449217.1:p.Ile45=
NM_024312.4:c.500T=	NP_077288.2:p.Ile167=
XM_006719593.2:c.500T=	XP_006719656.1:p.Ile167=
XM_011538731.1:c.419T=	XP_011537033.1:p.Ile140=
XM_006719593.3:c.500T=	XP_006719656.1:p.Ile167=
XM_011538731.2:c.419T=	XP_011537033.1:p.Ile140=
XM_017019961.1:c.284T=	XP_016875450.1:p.Ile95=
XM_017019962.2:c.-851T=	XP_016875451.1:n.-851T=
NM_024312.5:c.500T= MANE Select	NP_077288.2:p.Ile167=