Canonical Allele Identifier: CA1020067

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114675614T>A , CM000663.2:g.114675614T>A	GRCh38
NC_000001.10:g.115218235T>A , CM000663.1:g.115218235T>A	GRCh37
NC_000001.9:g.115019758T>A	NCBI36
NG_008012.1:g.24942A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1583A>T	ENSP00000358551.4:p.Glu528Val
ENST00000520113.7:c.1595A>T MANE Select	ENSP00000430075.3:p.Glu532Val
ENST00000637080.1:c.1378A>T	ENSP00000489753.1:n.1378A>T
ENST00000638214.1:n.625A>T
ENST00000639077.1:n.1117A>T
ENST00000639274.1:n.225A>T
ENST00000369538.3:c.1682A>T	ENSP00000358551.3:p.Glu561Val
ENST00000520113.6:c.1694A>T	ENSP00000430075.2:p.Glu565Val
NM_000036.2:c.1694A>T	NP_000027.2:p.Glu565Val
NM_001172626.1:c.1682A>T	NP_001166097.1:p.Glu561Val
NM_000036.3:c.1595A>T MANE Select	NP_000027.3:p.Glu532Val
NM_001172626.2:c.1583A>T	NP_001166097.2:p.Glu528Val