Canonical Allele Identifier: CA1239706322
Gene: HADHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26203900T= , CM000664.2:g.26203900T= GRCh38
NC_000002.11:g.26426769T= , CM000664.1:g.26426769T= GRCh37
NC_000002.10:g.26280273T= NCBI36
NG_007121.1:g.45721A=
NG_007121.2:g.45722A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1220+162A= MANE Select ENSP00000370023.3:n.1220+162A=
ENST00000492433.2:c.1220+162A= ENSP00000438039.2:n.1220+162A=
ENST00000643057.1:c.*1111+162A= ENSP00000493761.1:n.*1111+162A=
ENST00000643063.1:c.*266+162A= ENSP00000495353.1:n.*266+162A=
ENST00000643233.1:c.*1111+162A= ENSP00000493880.1:n.*1111+162A=
ENST00000644428.1:c.1220+162A= ENSP00000495560.1:n.1220+162A=
ENST00000645274.1:c.1115+162A= ENSP00000493996.1:n.1115+162A=
ENST00000646031.1:c.579+162A=
ENST00000646483.1:c.1086+162A= ENSP00000496185.1:n.1086+162A=
ENST00000380649.7:c.1220+162A= ENSP00000370023.3:n.1220+162A=
NM_000182.4:c.1220+162A= NP_000173.2:n.1220+162A=
NM_000182.5:c.1220+162A= MANE Select NP_000173.2:n.1220+162A=