Canonical Allele Identifier: CA341749108
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677986C>A , CM000663.2:g.114677986C>A GRCh38
NC_000001.10:g.115220607C>A , CM000663.1:g.115220607C>A GRCh37
NC_000001.9:g.115022130C>A NCBI36
NG_008012.1:g.22570G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1136G>T ENSP00000358551.4:p.Gly379Val
ENST00000520113.7:c.1148G>T MANE Select ENSP00000430075.3:p.Gly383Val
ENST00000637080.1:n.931G>T ENSP00000489753.1:n.931G>T
ENST00000639077.1:n.813G>T
ENST00000369538.3:c.1235G>T ENSP00000358551.3:p.Gly412Val
ENST00000520113.6:c.1247G>T ENSP00000430075.2:p.Gly416Val
NM_000036.2:c.1247G>T NP_000027.2:p.Gly416Val
NM_001172626.1:c.1235G>T NP_001166097.1:p.Gly412Val
NM_000036.3:c.1148G>T MANE Select NP_000027.3:p.Gly383Val
NM_001172626.2:c.1136G>T NP_001166097.2:p.Gly379Val