Canonical Allele Identifier: CA2058969455

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796729C= , CM000674.2:g.101796729C=	GRCh38
NC_000012.11:g.102190507C= , CM000674.1:g.102190507C=	GRCh37
NC_000012.10:g.100714638C=	NCBI36
NG_021243.1:g.39139G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.151G= MANE Select	ENSP00000299314.7:p.Val51=
ENST00000647144.1:n.271G=
ENST00000299314.11:c.151G=	ENSP00000299314.7:p.Val51=
ENST00000392919.4:c.151G=	ENSP00000376651.4:p.Val51=
ENST00000549165.1:c.151G=	ENSP00000450413.1:p.Val51=
ENST00000549940.5:c.151G=	ENSP00000449150.1:p.Val51=
NM_024312.4:c.151G=	NP_077288.2:p.Val51=
XM_006719593.2:c.151G=	XP_006719656.1:p.Val51=
XM_011538731.1:c.70G=	XP_011537033.1:p.Val24=
XM_006719593.3:c.151G=	XP_006719656.1:p.Val51=
XM_011538731.2:c.70G=	XP_011537033.1:p.Val24=
XM_017019961.1:c.-66G=	XP_016875450.1:n.-66G=
XM_017019962.2:c.-1200G=	XP_016875451.1:n.-1200G=
NM_024312.5:c.151G= MANE Select	NP_077288.2:p.Val51=