Canonical Allele Identifier: CA1190281865

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684292G= , CM000663.2:g.114684292G=	GRCh38
NC_000001.10:g.115226913G= , CM000663.1:g.115226913G=	GRCh37
NC_000001.9:g.115028436G=	NCBI36
NG_008012.1:g.16264C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.442C=	ENSP00000358551.4:p.Gln148=
ENST00000520113.7:c.454C= MANE Select	ENSP00000430075.3:p.Gln152=
ENST00000637080.1:c.457C=	ENSP00000489753.1:p.Gln153=
ENST00000639077.1:n.119C=
ENST00000369538.3:c.541C=	ENSP00000358551.3:p.Gln181=
ENST00000485564.3:n.328C=
ENST00000520113.6:c.553C=	ENSP00000430075.2:p.Gln185=
NM_000036.2:c.553C=	NP_000027.2:p.Gln185=
NM_001172626.1:c.541C=	NP_001166097.1:p.Gln181=
NM_000036.3:c.454C= MANE Select	NP_000027.3:p.Gln152=
NM_001172626.2:c.442C=	NP_001166097.2:p.Gln148=