Canonical Allele Identifier: CA1559958

Gene: HADHA

Linked Data

• ClinVar Variation Id: 725402
• ClinVar RCV Id: RCV000899453 ; RCV001271666
• dbSNP Id: rs147103714
• ExAC: 2:26461825 G / T
• gnomAD v2: 2-26461825-G-T
• gnomAD v3: 2-26238957-G-T
• gnomAD v4: 2-26238957-G-T
• MyVariant Identifiers: chr2:g.26461825G>T (hg19) ; chr2:g.26238957G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26238957G>T , CM000664.2:g.26238957G>T	GRCh38
NC_000002.11:g.26461825G>T , CM000664.1:g.26461825G>T	GRCh37
NC_000002.10:g.26315329G>T	NCBI36
NG_007121.1:g.10665C>A
NG_007121.2:g.10665C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.157C>A MANE Select	ENSP00000370023.3:p.Arg53=
ENST00000471743.2:n.168C>A
ENST00000492433.2:c.157C>A	ENSP00000438039.2:p.Arg53=
ENST00000643057.1:c.*48C>A	ENSP00000493761.1:n.*48C>A
ENST00000643063.1:c.157C>A	ENSP00000495353.1:p.Arg53=
ENST00000643233.1:c.*48C>A	ENSP00000493880.1:n.*48C>A
ENST00000644428.1:c.157C>A	ENSP00000495560.1:p.Arg53=
ENST00000645274.1:c.157C>A	ENSP00000493996.1:p.Arg53=
ENST00000646483.1:c.157C>A	ENSP00000496185.1:p.Arg53=
ENST00000380649.7:c.157C>A	ENSP00000370023.3:p.Arg53=
NM_000182.4:c.157C>A	NP_000173.2:p.Arg53=
NM_000182.5:c.157C>A MANE Select	NP_000173.2:p.Arg53=