Canonical Allele Identifier: CA128022
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18271
dbSNP Id: rs17602729

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114693436G>A , CM000663.2:g.114693436G>A GRCh38
NC_000001.10:g.115236057G>A , CM000663.1:g.115236057G>A GRCh37
NC_000001.9:g.115037580G>A NCBI36
NG_008012.1:g.7120C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000637080.1:n.37+2001C>T ENSP00000489753.1:p.=
ENST00000369538.3:c.121+2014C>T ENSP00000358551.3:p.=
ENST00000520113.6:c.133C>T ENSP00000430075.2:p.Gln45Ter
NM_000036.2:c.133C>T NP_000027.2:p.Gln45Ter
NM_001172626.1:c.121+2014C>T NP_001166097.1:p.=
NM_000036.3:c.34C>T MANE Select NP_000027.3:p.Gln12Ter
NM_001172626.2:c.22+2014C>T NP_001166097.2:p.=