Canonical Allele Identifier: CA2058964807

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786074A= , CM000674.2:g.101786074A=	GRCh38
NC_000012.11:g.102179852A= , CM000674.1:g.102179852A=	GRCh37
NC_000012.10:g.100703983A=	NCBI36
NG_021243.1:g.49794T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.509T= MANE Select	ENSP00000299314.7:p.Val170=
ENST00000299314.11:c.509T=	ENSP00000299314.7:p.Val170=
ENST00000549940.5:c.509T=	ENSP00000449150.1:p.Val170=
ENST00000550352.1:n.303T=
ENST00000552681.1:c.143T=	ENSP00000449217.1:p.Val48=
NM_024312.4:c.509T=	NP_077288.2:p.Val170=
XM_006719593.2:c.509T=	XP_006719656.1:p.Val170=
XM_011538731.1:c.428T=	XP_011537033.1:p.Val143=
XM_006719593.3:c.509T=	XP_006719656.1:p.Val170=
XM_011538731.2:c.428T=	XP_011537033.1:p.Val143=
XM_017019961.1:c.293T=	XP_016875450.1:p.Val98=
XM_017019962.2:c.-842T=	XP_016875451.1:n.-842T=
NM_024312.5:c.509T= MANE Select	NP_077288.2:p.Val170=