Canonical Allele Identifier: CA346129449
Gene: HADHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26204143G>A , CM000664.2:g.26204143G>A GRCh38
NC_000002.11:g.26427012G>A , CM000664.1:g.26427012G>A GRCh37
NC_000002.10:g.26280516G>A NCBI36
NG_007121.1:g.45478C>T
NG_007121.2:g.45479C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1139C>T MANE Select ENSP00000370023.3:p.Ser380Phe
ENST00000492433.2:c.1139C>T ENSP00000438039.2:p.Ser380Phe
ENST00000643057.1:c.*1030C>T ENSP00000493761.1:n.*1030C>T
ENST00000643063.1:c.*185C>T ENSP00000495353.1:n.*185C>T
ENST00000643233.1:c.*1030C>T ENSP00000493880.1:n.*1030C>T
ENST00000644428.1:c.1139C>T ENSP00000495560.1:p.Ser380Phe
ENST00000645274.1:c.1034C>T ENSP00000493996.1:p.Ser345Phe
ENST00000646031.1:c.498C>T
ENST00000646483.1:c.1005C>T ENSP00000496185.1:n.1005C>T
ENST00000380649.7:c.1139C>T ENSP00000370023.3:p.Ser380Phe
NM_000182.4:c.1139C>T NP_000173.2:p.Ser380Phe
NM_000182.5:c.1139C>T MANE Select NP_000173.2:p.Ser380Phe