Canonical Allele Identifier: CA29055257
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1958703
ClinVar RCV Id: RCV002696215
dbSNP Id: rs960218778

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677914A>G , CM000663.2:g.114677914A>G GRCh38
NC_000001.10:g.115220535A>G , CM000663.1:g.115220535A>G GRCh37
NC_000001.9:g.115022058A>G NCBI36
NG_008012.1:g.22642T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1208T>C ENSP00000358551.4:p.Ile403Thr
ENST00000520113.7:c.1220T>C MANE Select ENSP00000430075.3:p.Ile407Thr
ENST00000637080.1:c.1003T>C ENSP00000489753.1:n.1003T>C
ENST00000639077.1:n.885T>C
ENST00000369538.3:c.1307T>C ENSP00000358551.3:p.Ile436Thr
ENST00000520113.6:c.1319T>C ENSP00000430075.2:p.Ile440Thr
NM_000036.2:c.1319T>C NP_000027.2:p.Ile440Thr
NM_001172626.1:c.1307T>C NP_001166097.1:p.Ile436Thr
NM_000036.3:c.1220T>C MANE Select NP_000027.3:p.Ile407Thr
NM_001172626.2:c.1208T>C NP_001166097.2:p.Ile403Thr