Canonical Allele Identifier: CA346128680

Gene: HADHA

Linked Data

• dbSNP Id: rs1417300231
• gnomAD v2: 2-26426946-T-G
• gnomAD v4: 2-26204077-T-G
• MyVariant Identifiers: chr2:g.26426946T>G (hg19) ; chr2:g.26204077T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204077T>G , CM000664.2:g.26204077T>G	GRCh38
NC_000002.11:g.26426946T>G , CM000664.1:g.26426946T>G	GRCh37
NC_000002.10:g.26280450T>G	NCBI36
NG_007121.1:g.45544A>C
NG_007121.2:g.45545A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1205A>C MANE Select	ENSP00000370023.3:p.Gln402Pro
ENST00000492433.2:c.1205A>C	ENSP00000438039.2:p.Gln402Pro
ENST00000643057.1:c.*1096A>C	ENSP00000493761.1:n.*1096A>C
ENST00000643063.1:c.*251A>C	ENSP00000495353.1:n.*251A>C
ENST00000643233.1:c.*1096A>C	ENSP00000493880.1:n.*1096A>C
ENST00000644428.1:c.1205A>C	ENSP00000495560.1:p.Gln402Pro
ENST00000645274.1:c.1100A>C	ENSP00000493996.1:p.Gln367Pro
ENST00000646031.1:c.564A>C
ENST00000646483.1:c.1071A>C	ENSP00000496185.1:n.1071A>C
ENST00000380649.7:c.1205A>C	ENSP00000370023.3:p.Gln402Pro
NM_000182.4:c.1205A>C	NP_000173.2:p.Gln402Pro
NM_000182.5:c.1205A>C MANE Select	NP_000173.2:p.Gln402Pro