Canonical Allele Identifier: CA346130047

Gene: HADHA

Linked Data

• gnomAD v4: 2-26204195-G-A
• COSMIC: COSM4984704
• MyVariant Identifiers: chr2:g.26427064G>A (hg19) ; chr2:g.26204195G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204195G>A , CM000664.2:g.26204195G>A	GRCh38
NC_000002.11:g.26427064G>A , CM000664.1:g.26427064G>A	GRCh37
NC_000002.10:g.26280568G>A	NCBI36
NG_007121.1:g.45426C>T
NG_007121.2:g.45427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1087C>T MANE Select	ENSP00000370023.3:p.His363Tyr
ENST00000492433.2:c.1087C>T	ENSP00000438039.2:p.His363Tyr
ENST00000643057.1:c.*978C>T	ENSP00000493761.1:n.*978C>T
ENST00000643063.1:c.*133C>T	ENSP00000495353.1:n.*133C>T
ENST00000643233.1:c.*978C>T	ENSP00000493880.1:n.*978C>T
ENST00000644428.1:c.1087C>T	ENSP00000495560.1:p.His363Tyr
ENST00000645274.1:c.982C>T	ENSP00000493996.1:p.His328Tyr
ENST00000646031.1:c.446C>T
ENST00000646483.1:c.953C>T	ENSP00000496185.1:n.953C>T
ENST00000380649.7:c.1087C>T	ENSP00000370023.3:p.His363Tyr
NM_000182.4:c.1087C>T	NP_000173.2:p.His363Tyr
NM_000182.5:c.1087C>T MANE Select	NP_000173.2:p.His363Tyr