Canonical Allele Identifier: CA346128902

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26426970A>G (hg19) ; chr2:g.26204101A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204101A>G , CM000664.2:g.26204101A>G	GRCh38
NC_000002.11:g.26426970A>G , CM000664.1:g.26426970A>G	GRCh37
NC_000002.10:g.26280474A>G	NCBI36
NG_007121.1:g.45520T>C
NG_007121.2:g.45521T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1181T>C MANE Select	ENSP00000370023.3:p.Leu394Pro
ENST00000492433.2:c.1181T>C	ENSP00000438039.2:p.Leu394Pro
ENST00000643057.1:c.*1072T>C	ENSP00000493761.1:n.*1072T>C
ENST00000643063.1:c.*227T>C	ENSP00000495353.1:n.*227T>C
ENST00000643233.1:c.*1072T>C	ENSP00000493880.1:n.*1072T>C
ENST00000644428.1:c.1181T>C	ENSP00000495560.1:p.Leu394Pro
ENST00000645274.1:c.1076T>C	ENSP00000493996.1:p.Leu359Pro
ENST00000646031.1:c.540T>C
ENST00000646483.1:c.1047T>C	ENSP00000496185.1:n.1047T>C
ENST00000380649.7:c.1181T>C	ENSP00000370023.3:p.Leu394Pro
NM_000182.4:c.1181T>C	NP_000173.2:p.Leu394Pro
NM_000182.5:c.1181T>C MANE Select	NP_000173.2:p.Leu394Pro