Canonical Allele Identifier: CA2058955611

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764924G= , CM000674.2:g.101764924G=	GRCh38
NC_000012.11:g.102158702G= , CM000674.1:g.102158702G=	GRCh37
NC_000012.10:g.100682833G=	NCBI36
NG_021243.1:g.70944C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1993C= MANE Select	ENSP00000299314.7:p.Leu665=
ENST00000299314.11:c.1993C=	ENSP00000299314.7:p.Leu665=
NM_024312.4:c.1993C=	NP_077288.2:p.Leu665=
XM_006719593.2:c.1993C=	XP_006719656.1:p.Leu665=
XM_011538731.1:c.1912C=	XP_011537033.1:p.Leu638=
XM_006719593.3:c.1993C=	XP_006719656.1:p.Leu665=
XM_011538731.2:c.1912C=	XP_011537033.1:p.Leu638=
XM_017019961.1:c.1777C=	XP_016875450.1:p.Leu593=
XM_017019962.2:c.766C=	XP_016875451.1:p.Leu256=
NM_024312.5:c.1993C= MANE Select	NP_077288.2:p.Leu665=