Canonical Allele Identifier: CA341749129
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677996T>A , CM000663.2:g.114677996T>A GRCh38
NC_000001.10:g.115220617T>A , CM000663.1:g.115220617T>A GRCh37
NC_000001.9:g.115022140T>A NCBI36
NG_008012.1:g.22560A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1126A>T ENSP00000358551.4:p.Asn376Tyr
ENST00000520113.7:c.1138A>T MANE Select ENSP00000430075.3:p.Asn380Tyr
ENST00000637080.1:c.921A>T ENSP00000489753.1:n.921A>T
ENST00000639077.1:n.803A>T
ENST00000369538.3:c.1225A>T ENSP00000358551.3:p.Asn409Tyr
ENST00000520113.6:c.1237A>T ENSP00000430075.2:p.Asn413Tyr
NM_000036.2:c.1237A>T NP_000027.2:p.Asn413Tyr
NM_001172626.1:c.1225A>T NP_001166097.1:p.Asn409Tyr
NM_000036.3:c.1138A>T MANE Select NP_000027.3:p.Asn380Tyr
NM_001172626.2:c.1126A>T NP_001166097.2:p.Asn376Tyr