Canonical Allele Identifier: CA2058955569

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764842T= , CM000674.2:g.101764842T=	GRCh38
NC_000012.11:g.102158620T= , CM000674.1:g.102158620T=	GRCh37
NC_000012.10:g.100682751T=	NCBI36
NG_021243.1:g.71026A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2075A= MANE Select	ENSP00000299314.7:p.Glu692=
ENST00000299314.11:c.2075A=	ENSP00000299314.7:p.Glu692=
NM_024312.4:c.2075A=	NP_077288.2:p.Glu692=
XM_006719593.2:c.2075A=	XP_006719656.1:p.Glu692=
XM_011538731.1:c.1994A=	XP_011537033.1:p.Glu665=
XM_006719593.3:c.2075A=	XP_006719656.1:p.Glu692=
XM_011538731.2:c.1994A=	XP_011537033.1:p.Glu665=
XM_017019961.1:c.1859A=	XP_016875450.1:p.Glu620=
XM_017019962.2:c.848A=	XP_016875451.1:p.Glu283=
NM_024312.5:c.2075A= MANE Select	NP_077288.2:p.Glu692=