Canonical Allele Identifier: CA419883079
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677916G>T , CM000663.2:g.114677916G>T GRCh38
NC_000001.10:g.115220537G>T , CM000663.1:g.115220537G>T GRCh37
NC_000001.9:g.115022060G>T NCBI36
NG_008012.1:g.22640C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1206C>A ENSP00000358551.4:p.Ile402=
ENST00000520113.7:c.1218C>A MANE Select ENSP00000430075.3:p.Ile406=
ENST00000637080.1:c.1001C>A ENSP00000489753.1:n.1001C>A
ENST00000639077.1:n.883C>A
ENST00000369538.3:c.1305C>A ENSP00000358551.3:p.Ile435=
ENST00000520113.6:c.1317C>A ENSP00000430075.2:p.Ile439=
NM_000036.2:c.1317C>A NP_000027.2:p.Ile439=
NM_001172626.1:c.1305C>A NP_001166097.1:p.Ile435=
NM_000036.3:c.1218C>A MANE Select NP_000027.3:p.Ile406=
NM_001172626.2:c.1206C>A NP_001166097.2:p.Ile402=