Canonical Allele Identifier: CA2058950595

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753514T= , CM000674.2:g.101753514T=	GRCh38
NC_000012.11:g.102147292T= , CM000674.1:g.102147292T=	GRCh37
NC_000012.10:g.100671423T=	NCBI36
NG_021243.1:g.82354A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3460A= MANE Select	ENSP00000299314.7:p.Ile1154=
ENST00000299314.11:c.3460A=	ENSP00000299314.7:p.Ile1154=
ENST00000549738.5:c.358A=	ENSP00000450161.1:n.358A=
NM_024312.4:c.3460A=	NP_077288.2:p.Ile1154=
XM_011538731.1:c.3379A=	XP_011537033.1:p.Ile1127=
XM_011538731.2:c.3379A=	XP_011537033.1:p.Ile1127=
XM_017019961.1:c.3244A=	XP_016875450.1:p.Ile1082=
XM_017019962.2:c.2233A=	XP_016875451.1:p.Ile745=
NM_024312.5:c.3460A= MANE Select	NP_077288.2:p.Ile1154=