Canonical Allele Identifier: CA1140594123

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677972G= , CM000663.2:g.114677972G=	GRCh38
NC_000001.10:g.115220593G= , CM000663.1:g.115220593G=	GRCh37
NC_000001.9:g.115022116G=	NCBI36
NG_008012.1:g.22584C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1150C=	ENSP00000358551.4:p.Arg384=
ENST00000520113.7:c.1162C= MANE Select	ENSP00000430075.3:p.Arg388=
ENST00000637080.1:c.945C=	ENSP00000489753.1:n.945C=
ENST00000639077.1:n.827C=
ENST00000369538.3:c.1249C=	ENSP00000358551.3:p.Arg417=
ENST00000520113.6:c.1261C=	ENSP00000430075.2:p.Arg421=
NM_000036.2:c.1261C=	NP_000027.2:p.Arg421=
NM_001172626.1:c.1249C=	NP_001166097.1:p.Arg417=
NM_000036.3:c.1162C= MANE Select	NP_000027.3:p.Arg388=
NM_001172626.2:c.1150C=	NP_001166097.2:p.Arg384=