Canonical Allele Identifier: CA1148224463

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684206G= , CM000663.2:g.114684206G=	GRCh38
NC_000001.10:g.115226827G= , CM000663.1:g.115226827G=	GRCh37
NC_000001.9:g.115028350G=	NCBI36
NG_008012.1:g.16350C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.528C=	ENSP00000358551.4:p.Phe176=
ENST00000520113.7:c.540C= MANE Select	ENSP00000430075.3:p.Phe180=
ENST00000637080.1:c.543C=	ENSP00000489753.1:p.Phe181=
ENST00000639077.1:n.205C=
ENST00000369538.3:c.627C=	ENSP00000358551.3:p.Phe209=
ENST00000485564.3:n.414C=
ENST00000520113.6:c.639C=	ENSP00000430075.2:p.Phe213=
NM_000036.2:c.639C=	NP_000027.2:p.Phe213=
NM_001172626.1:c.627C=	NP_001166097.1:p.Phe209=
NM_000036.3:c.540C= MANE Select	NP_000027.3:p.Phe180=
NM_001172626.2:c.528C=	NP_001166097.2:p.Phe176=