Canonical Allele Identifier: CA1239706383
Gene: HADHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26204071A= , CM000664.2:g.26204071A= GRCh38
NC_000002.11:g.26426940A= , CM000664.1:g.26426940A= GRCh37
NC_000002.10:g.26280444A= NCBI36
NG_007121.1:g.45550T=
NG_007121.2:g.45551T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1211T= MANE Select ENSP00000370023.3:p.Val404=
ENST00000492433.2:c.1211T= ENSP00000438039.2:p.Val404=
ENST00000643057.1:c.*1102T= ENSP00000493761.1:n.*1102T=
ENST00000643063.1:c.*257T= ENSP00000495353.1:n.*257T=
ENST00000643233.1:c.*1102T= ENSP00000493880.1:n.*1102T=
ENST00000644428.1:c.1211T= ENSP00000495560.1:p.Val404=
ENST00000645274.1:c.1106T= ENSP00000493996.1:p.Val369=
ENST00000646031.1:c.570T=
ENST00000646483.1:c.1077T= ENSP00000496185.1:n.1077T=
ENST00000380649.7:c.1211T= ENSP00000370023.3:p.Val404=
NM_000182.4:c.1211T= NP_000173.2:p.Val404=
NM_000182.5:c.1211T= MANE Select NP_000173.2:p.Val404=