Canonical Allele Identifier: CA2058964789

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786036C= , CM000674.2:g.101786036C=	GRCh38
NC_000012.11:g.102179814C= , CM000674.1:g.102179814C=	GRCh37
NC_000012.10:g.100703945C=	NCBI36
NG_021243.1:g.49832G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.547G= MANE Select	ENSP00000299314.7:p.Val183=
ENST00000299314.11:c.547G=	ENSP00000299314.7:p.Val183=
ENST00000549940.5:c.547G=	ENSP00000449150.1:p.Val183=
ENST00000550352.1:n.341G=
ENST00000552681.1:c.181G=	ENSP00000449217.1:p.Val61=
NM_024312.4:c.547G=	NP_077288.2:p.Val183=
XM_006719593.2:c.547G=	XP_006719656.1:p.Val183=
XM_011538731.1:c.466G=	XP_011537033.1:p.Val156=
XM_006719593.3:c.547G=	XP_006719656.1:p.Val183=
XM_011538731.2:c.466G=	XP_011537033.1:p.Val156=
XM_017019961.1:c.331G=	XP_016875450.1:p.Val111=
XM_017019962.2:c.-804G=	XP_016875451.1:n.-804G=
NM_024312.5:c.547G= MANE Select	NP_077288.2:p.Val183=