Canonical Allele Identifier: CA202973
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197620
dbSNP Id: rs139582106

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684278C>A , CM000663.2:g.114684278C>A GRCh38
NC_000001.10:g.115226899C>A , CM000663.1:g.115226899C>A GRCh37
NC_000001.9:g.115028422C>A NCBI36
NG_008012.1:g.16278G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.456G>T ENSP00000358551.4:p.Gln152His
ENST00000520113.7:c.468G>T MANE Select ENSP00000430075.3:p.Gln156His
ENST00000637080.1:n.471G>T ENSP00000489753.1:p.Gln157His
ENST00000639077.1:n.133G>T
ENST00000369538.3:c.555G>T ENSP00000358551.3:p.Gln185His
ENST00000485564.3:n.342G>T
ENST00000520113.6:c.567G>T ENSP00000430075.2:p.Gln189His
NM_000036.2:c.567G>T NP_000027.2:p.Gln189His
NM_001172626.1:c.555G>T NP_001166097.1:p.Gln185His
NM_000036.3:c.468G>T MANE Select NP_000027.3:p.Gln156His
NM_001172626.2:c.456G>T NP_001166097.2:p.Gln152His