Canonical Allele Identifier: CA1020041

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114674867C>T , CM000663.2:g.114674867C>T	GRCh38
NC_000001.10:g.115217488C>T , CM000663.1:g.115217488C>T	GRCh37
NC_000001.9:g.115019011C>T	NCBI36
NG_008012.1:g.25689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1673G>A	ENSP00000358551.4:p.Arg558Gln
ENST00000520113.7:c.1685G>A MANE Select	ENSP00000430075.3:p.Arg562Gln
ENST00000637080.1:c.1468G>A	ENSP00000489753.1:n.1468G>A
ENST00000638214.1:n.798G>A
ENST00000639077.1:n.1207G>A
ENST00000639274.1:n.315G>A
ENST00000369538.3:c.1772G>A	ENSP00000358551.3:p.Arg591Gln
ENST00000520113.6:c.1784G>A	ENSP00000430075.2:p.Arg595Gln
NM_000036.2:c.1784G>A	NP_000027.2:p.Arg595Gln
NM_001172626.1:c.1772G>A	NP_001166097.1:p.Arg591Gln
NM_000036.3:c.1685G>A MANE Select	NP_000027.3:p.Arg562Gln
NM_001172626.2:c.1673G>A	NP_001166097.2:p.Arg558Gln