Canonical Allele Identifier: CA425201524

Gene: HADHA

Linked Data

• dbSNP Id: rs1304930744
• gnomAD v2: 2-26427041-C-T
• gnomAD v4: 2-26204172-C-T
• MyVariant Identifiers: chr2:g.26427041C>T (hg19) ; chr2:g.26204172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204172C>T , CM000664.2:g.26204172C>T	GRCh38
NC_000002.11:g.26427041C>T , CM000664.1:g.26427041C>T	GRCh37
NC_000002.10:g.26280545C>T	NCBI36
NG_007121.1:g.45449G>A
NG_007121.2:g.45450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1110G>A MANE Select	ENSP00000370023.3:p.Gly370=
ENST00000492433.2:c.1110G>A	ENSP00000438039.2:p.Gly370=
ENST00000643057.1:c.*1001G>A	ENSP00000493761.1:n.*1001G>A
ENST00000643063.1:c.*156G>A	ENSP00000495353.1:n.*156G>A
ENST00000643233.1:c.*1001G>A	ENSP00000493880.1:n.*1001G>A
ENST00000644428.1:c.1110G>A	ENSP00000495560.1:p.Gly370=
ENST00000645274.1:c.1005G>A	ENSP00000493996.1:p.Gly335=
ENST00000646031.1:c.469G>A
ENST00000646483.1:c.976G>A	ENSP00000496185.1:n.976G>A
ENST00000380649.7:c.1110G>A	ENSP00000370023.3:p.Gly370=
NM_000182.4:c.1110G>A	NP_000173.2:p.Gly370=
NM_000182.5:c.1110G>A MANE Select	NP_000173.2:p.Gly370=