Canonical Allele Identifier: CA2058969444

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796704T= , CM000674.2:g.101796704T=	GRCh38
NC_000012.11:g.102190482T= , CM000674.1:g.102190482T=	GRCh37
NC_000012.10:g.100714613T=	NCBI36
NG_021243.1:g.39164A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.176A= MANE Select	ENSP00000299314.7:p.Asn59=
ENST00000647144.1:n.296A=
ENST00000299314.11:c.176A=	ENSP00000299314.7:p.Asn59=
ENST00000392919.4:c.176A=	ENSP00000376651.4:p.Asn59=
ENST00000549165.1:c.176A=	ENSP00000450413.1:p.Asn59=
ENST00000549940.5:c.176A=	ENSP00000449150.1:p.Asn59=
NM_024312.4:c.176A=	NP_077288.2:p.Asn59=
XM_006719593.2:c.176A=	XP_006719656.1:p.Asn59=
XM_011538731.1:c.95A=	XP_011537033.1:p.Asn32=
XM_006719593.3:c.176A=	XP_006719656.1:p.Asn59=
XM_011538731.2:c.95A=	XP_011537033.1:p.Asn32=
XM_017019961.1:c.-41A=	XP_016875450.1:n.-41A=
XM_017019962.2:c.-1175A=	XP_016875451.1:n.-1175A=
NM_024312.5:c.176A= MANE Select	NP_077288.2:p.Asn59=