Canonical Allele Identifier: CA2658205409
Gene: HADHA HGNC NCBI

Linked Data

gnomAD v4: 2-26204263-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26204263T>C , CM000664.2:g.26204263T>C GRCh38
NC_000002.11:g.26427132T>C , CM000664.1:g.26427132T>C GRCh37
NC_000002.10:g.26280636T>C NCBI36
NG_007121.1:g.45358A>G
NG_007121.2:g.45359A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1086-67A>G MANE Select ENSP00000370023.3:n.1086-67A>G
ENST00000492433.2:c.1086-67A>G ENSP00000438039.2:n.1086-67A>G
ENST00000643057.1:c.*977-67A>G ENSP00000493761.1:n.*977-67A>G
ENST00000643063.1:c.*132-67A>G ENSP00000495353.1:n.*132-67A>G
ENST00000643233.1:c.*977-67A>G ENSP00000493880.1:n.*977-67A>G
ENST00000644428.1:c.1086-67A>G ENSP00000495560.1:n.1086-67A>G
ENST00000645274.1:c.981-67A>G ENSP00000493996.1:n.981-67A>G
ENST00000646031.1:c.445-67A>G
ENST00000646483.1:c.952-67A>G ENSP00000496185.1:n.952-67A>G
ENST00000380649.7:c.1086-67A>G ENSP00000370023.3:n.1086-67A>G
NM_000182.4:c.1086-67A>G NP_000173.2:n.1086-67A>G
NM_000182.5:c.1086-67A>G MANE Select NP_000173.2:n.1086-67A>G