Canonical Allele Identifier: CA1190281930

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684326C= , CM000663.2:g.114684326C=	GRCh38
NC_000001.10:g.115226947C= , CM000663.1:g.115226947C=	GRCh37
NC_000001.9:g.115028470C=	NCBI36
NG_008012.1:g.16230G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.408G=	ENSP00000358551.4:p.Leu136=
ENST00000520113.7:c.420G= MANE Select	ENSP00000430075.3:p.Leu140=
ENST00000637080.1:c.423G=	ENSP00000489753.1:p.Leu141=
ENST00000639077.1:n.85G=
ENST00000369538.3:c.507G=	ENSP00000358551.3:p.Leu169=
ENST00000485564.3:n.294G=
ENST00000520113.6:c.519G=	ENSP00000430075.2:p.Leu173=
NM_000036.2:c.519G=	NP_000027.2:p.Leu173=
NM_001172626.1:c.507G=	NP_001166097.1:p.Leu169=
NM_000036.3:c.420G= MANE Select	NP_000027.3:p.Leu140=
NM_001172626.2:c.408G=	NP_001166097.2:p.Leu136=