Canonical Allele Identifier: CA1239706318
Gene: HADHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26203890C= , CM000664.2:g.26203890C= GRCh38
NC_000002.11:g.26426759C= , CM000664.1:g.26426759C= GRCh37
NC_000002.10:g.26280263C= NCBI36
NG_007121.1:g.45731G=
NG_007121.2:g.45732G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1220+172G= MANE Select ENSP00000370023.3:n.1220+172G=
ENST00000492433.2:c.1220+172G= ENSP00000438039.2:n.1220+172G=
ENST00000643057.1:c.*1111+172G= ENSP00000493761.1:n.*1111+172G=
ENST00000643063.1:c.*266+172G= ENSP00000495353.1:n.*266+172G=
ENST00000643233.1:c.*1111+172G= ENSP00000493880.1:n.*1111+172G=
ENST00000644428.1:c.1220+172G= ENSP00000495560.1:n.1220+172G=
ENST00000645274.1:c.1115+172G= ENSP00000493996.1:n.1115+172G=
ENST00000646031.1:c.579+172G=
ENST00000646483.1:c.1086+172G= ENSP00000496185.1:n.1086+172G=
ENST00000380649.7:c.1220+172G= ENSP00000370023.3:n.1220+172G=
NM_000182.4:c.1220+172G= NP_000173.2:n.1220+172G=
NM_000182.5:c.1220+172G= MANE Select NP_000173.2:n.1220+172G=