Canonical Allele Identifier: CA425201535
Gene: HADHA HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.26427047A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26204178A>C , CM000664.2:g.26204178A>C GRCh38
NC_000002.11:g.26427047A>C , CM000664.1:g.26427047A>C GRCh37
NC_000002.10:g.26280551A>C NCBI36
NG_007121.1:g.45443T>G
NG_007121.2:g.45444T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1104T>G MANE Select ENSP00000370023.3:p.Gly368=
ENST00000492433.2:c.1104T>G ENSP00000438039.2:p.Gly368=
ENST00000643057.1:c.*995T>G ENSP00000493761.1:n.*995T>G
ENST00000643063.1:c.*150T>G ENSP00000495353.1:n.*150T>G
ENST00000643233.1:c.*995T>G ENSP00000493880.1:n.*995T>G
ENST00000644428.1:c.1104T>G ENSP00000495560.1:p.Gly368=
ENST00000645274.1:c.999T>G ENSP00000493996.1:p.Gly333=
ENST00000646031.1:c.463T>G
ENST00000646483.1:c.970T>G ENSP00000496185.1:n.970T>G
ENST00000380649.7:c.1104T>G ENSP00000370023.3:p.Gly368=
NM_000182.4:c.1104T>G NP_000173.2:p.Gly368=
NM_000182.5:c.1104T>G MANE Select NP_000173.2:p.Gly368=