Canonical Allele Identifier: CA346091704

Gene: HADHA

Linked Data

• ClinVar Variation Id: 558129
• ClinVar RCV Id: RCV000674355 ; RCV002261169
• dbSNP Id: rs1553314070
• MyVariant Identifiers: chr2:g.26438045C>T (hg19) ; chr2:g.26215176C>T (hg38)
• MutSpliceDB: CA346091704

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26215176C>T , CM000664.2:g.26215176C>T	GRCh38
NC_000002.11:g.26438045C>T , CM000664.1:g.26438045C>T	GRCh37
NC_000002.10:g.26291549C>T	NCBI36
NG_007121.1:g.34445G>A
NG_007121.2:g.34446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.677-1G>A MANE Select	ENSP00000370023.3:n.677-1G>A
ENST00000471743.2:n.554-1G>A
ENST00000492433.2:c.677-1G>A	ENSP00000438039.2:n.677-1G>A
ENST00000643057.1:c.*568-1G>A	ENSP00000493761.1:n.*568-1G>A
ENST00000643063.1:c.677-1G>A	ENSP00000495353.1:n.677-1G>A
ENST00000643233.1:c.*568-1G>A	ENSP00000493880.1:n.*568-1G>A
ENST00000644428.1:c.677-1G>A	ENSP00000495560.1:n.677-1G>A
ENST00000645274.1:c.557-1G>A	ENSP00000493996.1:n.557-1G>A
ENST00000646483.1:c.543-1G>A	ENSP00000496185.1:n.543-1G>A
ENST00000380649.7:c.677-1G>A	ENSP00000370023.3:n.677-1G>A
NM_000182.4:c.677-1G>A	NP_000173.2:n.677-1G>A
NM_000182.5:c.677-1G>A MANE Select	NP_000173.2:n.677-1G>A