Canonical Allele Identifier: CA2058964861

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786176A= , CM000674.2:g.101786176A=	GRCh38
NC_000012.11:g.102179954A= , CM000674.1:g.102179954A=	GRCh37
NC_000012.10:g.100704085A=	NCBI36
NG_021243.1:g.49692T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.407T= MANE Select	ENSP00000299314.7:p.Val136=
ENST00000299314.11:c.407T=	ENSP00000299314.7:p.Val136=
ENST00000549940.5:c.407T=	ENSP00000449150.1:p.Val136=
ENST00000550352.1:n.201T=
ENST00000552681.1:c.41T=	ENSP00000449217.1:p.Val14=
NM_024312.4:c.407T=	NP_077288.2:p.Val136=
XM_006719593.2:c.407T=	XP_006719656.1:p.Val136=
XM_011538731.1:c.326T=	XP_011537033.1:p.Val109=
XM_006719593.3:c.407T=	XP_006719656.1:p.Val136=
XM_011538731.2:c.326T=	XP_011537033.1:p.Val109=
XM_017019961.1:c.191T=	XP_016875450.1:p.Val64=
XM_017019962.2:c.-944T=	XP_016875451.1:n.-944T=
NM_024312.5:c.407T= MANE Select	NP_077288.2:p.Val136=