Canonical Allele Identifier: CA346095060

Gene: HADHA

Linked Data

• gnomAD v4: 2-26238938-G-A
• MyVariant Identifiers: chr2:g.26461806G>A (hg19) ; chr2:g.26238938G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26238938G>A , CM000664.2:g.26238938G>A	GRCh38
NC_000002.11:g.26461806G>A , CM000664.1:g.26461806G>A	GRCh37
NC_000002.10:g.26315310G>A	NCBI36
NG_007121.1:g.10684C>T
NG_007121.2:g.10684C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.176C>T MANE Select	ENSP00000370023.3:p.Ser59Leu
ENST00000471743.2:n.187C>T
ENST00000492433.2:c.176C>T	ENSP00000438039.2:p.Ser59Leu
ENST00000643057.1:c.*67C>T	ENSP00000493761.1:n.*67C>T
ENST00000643063.1:c.176C>T	ENSP00000495353.1:p.Ser59Leu
ENST00000643233.1:c.*67C>T	ENSP00000493880.1:n.*67C>T
ENST00000644428.1:c.176C>T	ENSP00000495560.1:p.Ser59Leu
ENST00000645274.1:c.176C>T	ENSP00000493996.1:p.Ser59Leu
ENST00000646483.1:c.176C>T	ENSP00000496185.1:p.Ser59Leu
ENST00000380649.7:c.176C>T	ENSP00000370023.3:p.Ser59Leu
NM_000182.4:c.176C>T	NP_000173.2:p.Ser59Leu
NM_000182.5:c.176C>T MANE Select	NP_000173.2:p.Ser59Leu