Canonical Allele Identifier: CA2058957839

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770022T= , CM000674.2:g.101770022T=	GRCh38
NC_000012.11:g.102163800T= , CM000674.1:g.102163800T=	GRCh37
NC_000012.10:g.100687931T=	NCBI36
NG_021243.1:g.65846A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1283A= MANE Select	ENSP00000299314.7:p.Lys428=
ENST00000299314.11:c.1283A=	ENSP00000299314.7:p.Lys428=
ENST00000549940.5:c.1283A=	ENSP00000449150.1:p.Lys428=
NM_024312.4:c.1283A=	NP_077288.2:p.Lys428=
XM_006719593.2:c.1283A=	XP_006719656.1:p.Lys428=
XM_011538731.1:c.1202A=	XP_011537033.1:p.Lys401=
XM_006719593.3:c.1283A=	XP_006719656.1:p.Lys428=
XM_011538731.2:c.1202A=	XP_011537033.1:p.Lys401=
XM_017019961.1:c.1067A=	XP_016875450.1:p.Lys356=
XM_017019962.2:c.56A=	XP_016875451.1:p.Lys19=
NM_024312.5:c.1283A= MANE Select	NP_077288.2:p.Lys428=