Canonical Allele Identifier: CA1239706292
Gene: HADHA HGNC NCBI

Linked Data

dbSNP Id: rs1669911496

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26203776dup , CM000664.2:g.26203776dup GRCh38
NC_000002.11:g.26426645dup , CM000664.1:g.26426645dup GRCh37
NC_000002.10:g.26280149dup NCBI36
NG_007121.1:g.45845dup
NG_007121.2:g.45846dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1220+286dup MANE Select ENSP00000370023.3:n.1220+286dup
ENST00000492433.2:c.1220+286dup ENSP00000438039.2:n.1220+286dup
ENST00000643057.1:c.*1111+286dup ENSP00000493761.1:n.*1111+286dup
ENST00000643063.1:c.*266+286dup ENSP00000495353.1:n.*266+286dup
ENST00000643233.1:c.*1111+286dup ENSP00000493880.1:n.*1111+286dup
ENST00000644428.1:c.1220+286dup ENSP00000495560.1:n.1220+286dup
ENST00000645274.1:c.1115+286dup ENSP00000493996.1:n.1115+286dup
ENST00000646031.1:c.579+286dup
ENST00000646483.1:c.1086+286dup ENSP00000496185.1:n.1086+286dup
ENST00000380649.7:c.1220+286dup ENSP00000370023.3:n.1220+286dup
NM_000182.4:c.1220+286dup NP_000173.2:n.1220+286dup
NM_000182.5:c.1220+286dup MANE Select NP_000173.2:n.1220+286dup