Canonical Allele Identifier: CA2058955563

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764827A= , CM000674.2:g.101764827A=	GRCh38
NC_000012.11:g.102158605A= , CM000674.1:g.102158605A=	GRCh37
NC_000012.10:g.100682736A=	NCBI36
NG_021243.1:g.71041T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2090T= MANE Select	ENSP00000299314.7:p.Leu697=
ENST00000299314.11:c.2090T=	ENSP00000299314.7:p.Leu697=
NM_024312.4:c.2090T=	NP_077288.2:p.Leu697=
XM_006719593.2:c.2090T=	XP_006719656.1:p.Leu697=
XM_011538731.1:c.2009T=	XP_011537033.1:p.Leu670=
XM_006719593.3:c.2090T=	XP_006719656.1:p.Leu697=
XM_011538731.2:c.2009T=	XP_011537033.1:p.Leu670=
XM_017019961.1:c.1874T=	XP_016875450.1:p.Leu625=
XM_017019962.2:c.863T=	XP_016875451.1:p.Leu288=
NM_024312.5:c.2090T= MANE Select	NP_077288.2:p.Leu697=