Canonical Allele Identifier: CA346129060

Gene: HADHA

Linked Data

• ClinVar Variation Id: 983584
• ClinVar RCV Id: RCV001263583
• dbSNP Id: rs1669918554
• MyVariant Identifiers: chr2:g.26426983T>A (hg19) ; chr2:g.26204114T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204114T>A , CM000664.2:g.26204114T>A	GRCh38
NC_000002.11:g.26426983T>A , CM000664.1:g.26426983T>A	GRCh37
NC_000002.10:g.26280487T>A	NCBI36
NG_007121.1:g.45507A>T
NG_007121.2:g.45508A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1168A>T MANE Select	ENSP00000370023.3:p.Lys390Ter
ENST00000492433.2:c.1168A>T	ENSP00000438039.2:p.Lys390Ter
ENST00000643057.1:c.*1059A>T	ENSP00000493761.1:n.*1059A>T
ENST00000643063.1:c.*214A>T	ENSP00000495353.1:n.*214A>T
ENST00000643233.1:c.*1059A>T	ENSP00000493880.1:n.*1059A>T
ENST00000644428.1:c.1168A>T	ENSP00000495560.1:p.Lys390Ter
ENST00000645274.1:c.1063A>T	ENSP00000493996.1:p.Lys355Ter
ENST00000646031.1:c.527A>T
ENST00000646483.1:c.1034A>T	ENSP00000496185.1:n.1034A>T
ENST00000380649.7:c.1168A>T	ENSP00000370023.3:p.Lys390Ter
NM_000182.4:c.1168A>T	NP_000173.2:p.Lys390Ter
NM_000182.5:c.1168A>T MANE Select	NP_000173.2:p.Lys390Ter