Canonical Allele Identifier: CA2058956965

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768043A= , CM000674.2:g.101768043A=	GRCh38
NC_000012.11:g.102161821A= , CM000674.1:g.102161821A=	GRCh37
NC_000012.10:g.100685952A=	NCBI36
NG_021243.1:g.67825T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1402T= MANE Select	ENSP00000299314.7:p.Cys468=
ENST00000299314.11:c.1402T=	ENSP00000299314.7:p.Cys468=
ENST00000549940.5:c.1402T=	ENSP00000449150.1:p.Cys468=
ENST00000552009.1:n.61T=
NM_024312.4:c.1402T=	NP_077288.2:p.Cys468=
XM_006719593.2:c.1402T=	XP_006719656.1:p.Cys468=
XM_011538731.1:c.1321T=	XP_011537033.1:p.Cys441=
XM_006719593.3:c.1402T=	XP_006719656.1:p.Cys468=
XM_011538731.2:c.1321T=	XP_011537033.1:p.Cys441=
XM_017019961.1:c.1186T=	XP_016875450.1:p.Cys396=
XM_017019962.2:c.175T=	XP_016875451.1:p.Cys59=
NM_024312.5:c.1402T= MANE Select	NP_077288.2:p.Cys468=