Canonical Allele Identifier: CA2058964850

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786158T= , CM000674.2:g.101786158T=	GRCh38
NC_000012.11:g.102179936T= , CM000674.1:g.102179936T=	GRCh37
NC_000012.10:g.100704067T=	NCBI36
NG_021243.1:g.49710A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.425A= MANE Select	ENSP00000299314.7:p.Asp142=
ENST00000299314.11:c.425A=	ENSP00000299314.7:p.Asp142=
ENST00000549940.5:c.425A=	ENSP00000449150.1:p.Asp142=
ENST00000550352.1:n.219A=
ENST00000552681.1:c.59A=	ENSP00000449217.1:p.Asp20=
NM_024312.4:c.425A=	NP_077288.2:p.Asp142=
XM_006719593.2:c.425A=	XP_006719656.1:p.Asp142=
XM_011538731.1:c.344A=	XP_011537033.1:p.Asp115=
XM_006719593.3:c.425A=	XP_006719656.1:p.Asp142=
XM_011538731.2:c.344A=	XP_011537033.1:p.Asp115=
XM_017019961.1:c.209A=	XP_016875450.1:p.Asp70=
XM_017019962.2:c.-926A=	XP_016875451.1:n.-926A=
NM_024312.5:c.425A= MANE Select	NP_077288.2:p.Asp142=