Canonical Allele Identifier: CA419882667

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114674818G>A , CM000663.2:g.114674818G>A	GRCh38
NC_000001.10:g.115217439G>A , CM000663.1:g.115217439G>A	GRCh37
NC_000001.9:g.115018962G>A	NCBI36
NG_008012.1:g.25738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1722C>T	ENSP00000358551.4:p.Ala574=
ENST00000520113.7:c.1734C>T MANE Select	ENSP00000430075.3:p.Ala578=
ENST00000637080.1:c.1517C>T	ENSP00000489753.1:n.1517C>T
ENST00000638214.1:n.847C>T
ENST00000639077.1:n.1256C>T
ENST00000639274.1:n.364C>T
ENST00000369538.3:c.1821C>T	ENSP00000358551.3:p.Ala607=
ENST00000520113.6:c.1833C>T	ENSP00000430075.2:p.Ala611=
NM_000036.2:c.1833C>T	NP_000027.2:p.Ala611=
NM_001172626.1:c.1821C>T	NP_001166097.1:p.Ala607=
NM_000036.3:c.1734C>T MANE Select	NP_000027.3:p.Ala578=
NM_001172626.2:c.1722C>T	NP_001166097.2:p.Ala574=