Canonical Allele Identifier: CA2058964826

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786110T= , CM000674.2:g.101786110T=	GRCh38
NC_000012.11:g.102179888T= , CM000674.1:g.102179888T=	GRCh37
NC_000012.10:g.100704019T=	NCBI36
NG_021243.1:g.49758A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.473A= MANE Select	ENSP00000299314.7:p.Tyr158=
ENST00000299314.11:c.473A=	ENSP00000299314.7:p.Tyr158=
ENST00000549940.5:c.473A=	ENSP00000449150.1:p.Tyr158=
ENST00000550352.1:n.267A=
ENST00000552681.1:c.107A=	ENSP00000449217.1:p.Tyr36=
NM_024312.4:c.473A=	NP_077288.2:p.Tyr158=
XM_006719593.2:c.473A=	XP_006719656.1:p.Tyr158=
XM_011538731.1:c.392A=	XP_011537033.1:p.Tyr131=
XM_006719593.3:c.473A=	XP_006719656.1:p.Tyr158=
XM_011538731.2:c.392A=	XP_011537033.1:p.Tyr131=
XM_017019961.1:c.257A=	XP_016875450.1:p.Tyr86=
XM_017019962.2:c.-878A=	XP_016875451.1:n.-878A=
NM_024312.5:c.473A= MANE Select	NP_077288.2:p.Tyr158=