Canonical Allele Identifier: CA341749086
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677974A>T , CM000663.2:g.114677974A>T GRCh38
NC_000001.10:g.115220595A>T , CM000663.1:g.115220595A>T GRCh37
NC_000001.9:g.115022118A>T NCBI36
NG_008012.1:g.22582T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1148T>A ENSP00000358551.4:p.Leu383Gln
ENST00000520113.7:c.1160T>A MANE Select ENSP00000430075.3:p.Leu387Gln
ENST00000637080.1:n.943T>A ENSP00000489753.1:n.943T>A
ENST00000639077.1:n.825T>A
ENST00000369538.3:c.1247T>A ENSP00000358551.3:p.Leu416Gln
ENST00000520113.6:c.1259T>A ENSP00000430075.2:p.Leu420Gln
NM_000036.2:c.1259T>A NP_000027.2:p.Leu420Gln
NM_001172626.1:c.1247T>A NP_001166097.1:p.Leu416Gln
NM_000036.3:c.1160T>A MANE Select NP_000027.3:p.Leu387Gln
NM_001172626.2:c.1148T>A NP_001166097.2:p.Leu383Gln