Canonical Allele Identifier: CA2058964811

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786077T= , CM000674.2:g.101786077T=	GRCh38
NC_000012.11:g.102179855T= , CM000674.1:g.102179855T=	GRCh37
NC_000012.10:g.100703986T=	NCBI36
NG_021243.1:g.49791A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.506A= MANE Select	ENSP00000299314.7:p.Asn169=
ENST00000299314.11:c.506A=	ENSP00000299314.7:p.Asn169=
ENST00000549940.5:c.506A=	ENSP00000449150.1:p.Asn169=
ENST00000550352.1:n.300A=
ENST00000552681.1:c.140A=	ENSP00000449217.1:p.Asn47=
NM_024312.4:c.506A=	NP_077288.2:p.Asn169=
XM_006719593.2:c.506A=	XP_006719656.1:p.Asn169=
XM_011538731.1:c.425A=	XP_011537033.1:p.Asn142=
XM_006719593.3:c.506A=	XP_006719656.1:p.Asn169=
XM_011538731.2:c.425A=	XP_011537033.1:p.Asn142=
XM_017019961.1:c.290A=	XP_016875450.1:p.Asn97=
XM_017019962.2:c.-845A=	XP_016875451.1:n.-845A=
NM_024312.5:c.506A= MANE Select	NP_077288.2:p.Asn169=