Canonical Allele Identifier: CA2058954303

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760110A= , CM000674.2:g.101760110A=	GRCh38
NC_000012.11:g.102153888A= , CM000674.1:g.102153888A=	GRCh37
NC_000012.10:g.100678019A=	NCBI36
NG_021243.1:g.75758T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3169T= MANE Select	ENSP00000299314.7:p.Cys1057=
ENST00000299314.11:c.3169T=	ENSP00000299314.7:p.Cys1057=
ENST00000549194.1:n.35T=
NM_024312.4:c.3169T=	NP_077288.2:p.Cys1057=
XM_006719593.2:c.3169T=	XP_006719656.1:p.Cys1057=
XM_011538731.1:c.3088T=	XP_011537033.1:p.Cys1030=
XM_006719593.3:c.3169T=	XP_006719656.1:p.Cys1057=
XM_011538731.2:c.3088T=	XP_011537033.1:p.Cys1030=
XM_017019961.1:c.2953T=	XP_016875450.1:p.Cys985=
XM_017019962.2:c.1942T=	XP_016875451.1:p.Cys648=
NM_024312.5:c.3169T= MANE Select	NP_077288.2:p.Cys1057=