Canonical Allele Identifier: CA29055344
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs978092801

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677978C>T , CM000663.2:g.114677978C>T GRCh38
NC_000001.10:g.115220599C>T , CM000663.1:g.115220599C>T GRCh37
NC_000001.9:g.115022122C>T NCBI36
NG_008012.1:g.22578G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1144G>A ENSP00000358551.4:p.Glu382Lys
ENST00000520113.7:c.1156G>A MANE Select ENSP00000430075.3:p.Glu386Lys
ENST00000637080.1:n.939G>A ENSP00000489753.1:n.939G>A
ENST00000639077.1:n.821G>A
ENST00000369538.3:c.1243G>A ENSP00000358551.3:p.Glu415Lys
ENST00000520113.6:c.1255G>A ENSP00000430075.2:p.Glu419Lys
NM_000036.2:c.1255G>A NP_000027.2:p.Glu419Lys
NM_001172626.1:c.1243G>A NP_001166097.1:p.Glu415Lys
NM_000036.3:c.1156G>A MANE Select NP_000027.3:p.Glu386Lys
NM_001172626.2:c.1144G>A NP_001166097.2:p.Glu382Lys