Canonical Allele Identifier: CA1559935

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26236952A>G , CM000664.2:g.26236952A>G	GRCh38
NC_000002.11:g.26459820A>G , CM000664.1:g.26459820A>G	GRCh37
NC_000002.10:g.26313324A>G	NCBI36
NG_007121.1:g.12670T>C
NG_007121.2:g.12670T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000182.5:c.217T>C MANE Select	NP_000173.2:p.Ser73Pro
ENST00000380649.8:c.217T>C MANE Select	ENSP00000370023.3:p.Ser73Pro
NM_000182.4:c.217T>C	NP_000173.2:p.Ser73Pro
ENST00000380649.7:c.217T>C	ENSP00000370023.3:p.Ser73Pro
ENST00000471743.2:n.191+1982T>C
ENST00000492433.2:c.217T>C	ENSP00000438039.2:p.Ser73Pro
ENST00000643057.1:c.*108T>C	ENSP00000493761.1:n.*108T>C
ENST00000643063.1:c.217T>C	ENSP00000495353.1:p.Ser73Pro
ENST00000643233.1:c.*108T>C	ENSP00000493880.1:n.*108T>C
ENST00000644428.1:c.217T>C	ENSP00000495560.1:p.Ser73Pro
ENST00000645274.1:c.217T>C	ENSP00000493996.1:p.Ser73Pro
ENST00000646483.1:c.180+1982T>C	ENSP00000496185.1:n.180+1982T>C