Canonical Allele Identifier: CA2058957861

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770085T= , CM000674.2:g.101770085T=	GRCh38
NC_000012.11:g.102163863T= , CM000674.1:g.102163863T=	GRCh37
NC_000012.10:g.100687994T=	NCBI36
NG_021243.1:g.65783A=

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1220A= MANE Select	NP_077288.2:p.Asp407=
ENST00000299314.12:c.1220A= MANE Select	ENSP00000299314.7:p.Asp407=
NM_024312.4:c.1220A=	NP_077288.2:p.Asp407=
ENST00000299314.11:c.1220A=	ENSP00000299314.7:p.Asp407=
ENST00000549940.5:c.1220A=	ENSP00000449150.1:p.Asp407=
XM_006719593.2:c.1220A=	XP_006719656.1:p.Asp407=
XM_006719593.3:c.1220A=	XP_006719656.1:p.Asp407=
XM_011538731.1:c.1139A=	XP_011537033.1:p.Asp380=
XM_011538731.2:c.1139A=	XP_011537033.1:p.Asp380=
XM_017019961.1:c.1004A=	XP_016875450.1:p.Asp335=
XM_017019962.2:c.-8A=	XP_016875451.1:n.-8A=