Canonical Allele Identifier: CA425202566
Gene: HADHA HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.26461805T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26238937T>A , CM000664.2:g.26238937T>A GRCh38
NC_000002.11:g.26461805T>A , CM000664.1:g.26461805T>A GRCh37
NC_000002.10:g.26315309T>A NCBI36
NG_007121.1:g.10685A>T
NG_007121.2:g.10685A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.177A>T MANE Select ENSP00000370023.3:p.Ser59=
ENST00000471743.2:n.188A>T
ENST00000492433.2:c.177A>T ENSP00000438039.2:p.Ser59=
ENST00000643057.1:c.*68A>T ENSP00000493761.1:n.*68A>T
ENST00000643063.1:c.177A>T ENSP00000495353.1:p.Ser59=
ENST00000643233.1:c.*68A>T ENSP00000493880.1:n.*68A>T
ENST00000644428.1:c.177A>T ENSP00000495560.1:p.Ser59=
ENST00000645274.1:c.177A>T ENSP00000493996.1:p.Ser59=
ENST00000646483.1:c.177A>T ENSP00000496185.1:p.Ser59=
ENST00000380649.7:c.177A>T ENSP00000370023.3:p.Ser59=
NM_000182.4:c.177A>T NP_000173.2:p.Ser59=
NM_000182.5:c.177A>T MANE Select NP_000173.2:p.Ser59=