Canonical Allele Identifier: CA2058954228

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760075T= , CM000674.2:g.101760075T=	GRCh38
NC_000012.11:g.102153853T= , CM000674.1:g.102153853T=	GRCh37
NC_000012.10:g.100677984T=	NCBI36
NG_021243.1:g.75793A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3204A= MANE Select	ENSP00000299314.7:p.Leu1068=
ENST00000299314.11:c.3204A=	ENSP00000299314.7:p.Leu1068=
ENST00000549194.1:n.70A=
ENST00000550718.1:c.16A=
NM_024312.4:c.3204A=	NP_077288.2:p.Leu1068=
XM_006719593.2:c.3204A=	XP_006719656.1:p.Leu1068=
XM_011538731.1:c.3123A=	XP_011537033.1:p.Leu1041=
XM_006719593.3:c.3204A=	XP_006719656.1:p.Leu1068=
XM_011538731.2:c.3123A=	XP_011537033.1:p.Leu1041=
XM_017019961.1:c.2988A=	XP_016875450.1:p.Leu996=
XM_017019962.2:c.1977A=	XP_016875451.1:p.Leu659=
NM_024312.5:c.3204A= MANE Select	NP_077288.2:p.Leu1068=