Canonical Allele Identifier: CA3191744493

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796709T= , CM000674.2:g.101796709T=	GRCh38
NC_000012.11:g.102190487T= , CM000674.1:g.102190487T=	GRCh37
NC_000012.10:g.100714618T=	NCBI36
NG_021243.1:g.39159A=

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.171A= MANE Select	NP_077288.2:p.Arg57=
ENST00000299314.12:c.171A= MANE Select	ENSP00000299314.7:p.Arg57=
NM_024312.4:c.171A=	NP_077288.2:p.Arg57=
ENST00000299314.11:c.171A=	ENSP00000299314.7:p.Arg57=
ENST00000392919.4:c.171A=	ENSP00000376651.4:p.Arg57=
ENST00000549165.1:c.171A=	ENSP00000450413.1:p.Arg57=
ENST00000549940.5:c.171A=	ENSP00000449150.1:p.Arg57=
ENST00000647144.1:n.291A=
XM_006719593.2:c.171A=	XP_006719656.1:p.Arg57=
XM_006719593.3:c.171A=	XP_006719656.1:p.Arg57=
XM_011538731.1:c.90A=	XP_011537033.1:p.Arg30=
XM_011538731.2:c.90A=	XP_011537033.1:p.Arg30=
XM_017019961.1:c.-46A=	XP_016875450.1:n.-46A=
XM_017019962.2:c.-1180A=	XP_016875451.1:n.-1180A=