Canonical Allele Identifier: CA425202568

Gene: HADHA

Linked Data

• ClinVar Variation Id: 1102436
• ClinVar RCV Id: RCV001425774
• dbSNP Id: rs1574627624
• gnomAD v4: 2-26238937-T-G
• MyVariant Identifiers: chr2:g.26461805T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26238937T>G , CM000664.2:g.26238937T>G	GRCh38
NC_000002.11:g.26461805T>G , CM000664.1:g.26461805T>G	GRCh37
NC_000002.10:g.26315309T>G	NCBI36
NG_007121.1:g.10685A>C
NG_007121.2:g.10685A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.177A>C MANE Select	ENSP00000370023.3:p.Ser59=
ENST00000471743.2:n.188A>C
ENST00000492433.2:c.177A>C	ENSP00000438039.2:p.Ser59=
ENST00000643057.1:c.*68A>C	ENSP00000493761.1:n.*68A>C
ENST00000643063.1:c.177A>C	ENSP00000495353.1:p.Ser59=
ENST00000643233.1:c.*68A>C	ENSP00000493880.1:n.*68A>C
ENST00000644428.1:c.177A>C	ENSP00000495560.1:p.Ser59=
ENST00000645274.1:c.177A>C	ENSP00000493996.1:p.Ser59=
ENST00000646483.1:c.177A>C	ENSP00000496185.1:p.Ser59=
ENST00000380649.7:c.177A>C	ENSP00000370023.3:p.Ser59=
NM_000182.4:c.177A>C	NP_000173.2:p.Ser59=
NM_000182.5:c.177A>C MANE Select	NP_000173.2:p.Ser59=