Canonical Allele Identifier: CA145623
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 92338
dbSNP Id: rs34526199

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114679616T>A , CM000663.2:g.114679616T>A GRCh38
NC_000001.10:g.115222237T>A , CM000663.1:g.115222237T>A GRCh37
NC_000001.9:g.115023760T>A NCBI36
NG_008012.1:g.20940A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.848A>T ENSP00000358551.4:p.Lys283Ile
ENST00000520113.7:c.860A>T MANE Select ENSP00000430075.3:p.Lys287Ile
ENST00000637080.1:n.643A>T ENSP00000489753.1:n.643A>T
ENST00000639077.1:n.525A>T
ENST00000369538.3:c.947A>T ENSP00000358551.3:p.Lys316Ile
ENST00000520113.6:c.959A>T ENSP00000430075.2:p.Lys320Ile
NM_000036.2:c.959A>T NP_000027.2:p.Lys320Ile
NM_001172626.1:c.947A>T NP_001166097.1:p.Lys316Ile
NM_000036.3:c.860A>T MANE Select NP_000027.3:p.Lys287Ile
NM_001172626.2:c.848A>T NP_001166097.2:p.Lys283Ile