Canonical Allele Identifier: CA128024
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18272
dbSNP Id: rs35859650

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677972G>A , CM000663.2:g.114677972G>A GRCh38
NC_000001.10:g.115220593G>A , CM000663.1:g.115220593G>A GRCh37
NC_000001.9:g.115022116G>A NCBI36
NG_008012.1:g.22584C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1150C>T ENSP00000358551.4:p.Arg384Trp
ENST00000520113.7:c.1162C>T MANE Select ENSP00000430075.3:p.Arg388Trp
ENST00000637080.1:n.945C>T ENSP00000489753.1:n.945C>T
ENST00000639077.1:n.827C>T
ENST00000369538.3:c.1249C>T ENSP00000358551.3:p.Arg417Trp
ENST00000520113.6:c.1261C>T ENSP00000430075.2:p.Arg421Trp
NM_000036.2:c.1261C>T NP_000027.2:p.Arg421Trp
NM_001172626.1:c.1249C>T NP_001166097.1:p.Arg417Trp
NM_000036.3:c.1162C>T MANE Select NP_000027.3:p.Arg388Trp
NM_001172626.2:c.1150C>T NP_001166097.2:p.Arg384Trp