Canonical Allele Identifier: CA2058955597

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764897G= , CM000674.2:g.101764897G=	GRCh38
NC_000012.11:g.102158675G= , CM000674.1:g.102158675G=	GRCh37
NC_000012.10:g.100682806G=	NCBI36
NG_021243.1:g.70971C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2020C= MANE Select	ENSP00000299314.7:p.Arg674=
ENST00000299314.11:c.2020C=	ENSP00000299314.7:p.Arg674=
NM_024312.4:c.2020C=	NP_077288.2:p.Arg674=
XM_006719593.2:c.2020C=	XP_006719656.1:p.Arg674=
XM_011538731.1:c.1939C=	XP_011537033.1:p.Arg647=
XM_006719593.3:c.2020C=	XP_006719656.1:p.Arg674=
XM_011538731.2:c.1939C=	XP_011537033.1:p.Arg647=
XM_017019961.1:c.1804C=	XP_016875450.1:p.Arg602=
XM_017019962.2:c.793C=	XP_016875451.1:p.Arg265=
NM_024312.5:c.2020C= MANE Select	NP_077288.2:p.Arg674=