Canonical Allele Identifier: CA1239702444
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26194896C= , CM000664.2:g.26194896C= GRCh38
NC_000002.11:g.26417765C= , CM000664.1:g.26417765C= GRCh37
NC_000002.10:g.26271269C= NCBI36
NG_007121.1:g.54725G=
NG_007121.2:g.54726G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1620+196G= (HADHA) MANE Select ENSP00000370023.3:n.1620+196G=
ENST00000492433.2:c.1620+196G= (HADHA) ENSP00000438039.2:n.1620+196G=
ENST00000643057.1:c.*1511+196G= (HADHA) ENSP00000493761.1:n.*1511+196G=
ENST00000643063.1:c.*666+196G= (HADHA) ENSP00000495353.1:n.*666+196G=
ENST00000643233.1:c.*1511+196G= (HADHA) ENSP00000493880.1:n.*1511+196G=
ENST00000644428.1:c.*244+196G= (HADHA) ENSP00000495560.1:n.*244+196G=
ENST00000645274.1:c.1515+196G= (HADHA) ENSP00000493996.1:n.1515+196G=
ENST00000646031.1:c.979+196G= (HADHA)
ENST00000646483.1:c.1486+196G= (HADHA) ENSP00000496185.1:n.1486+196G=
ENST00000380649.7:c.1620+196G= (HADHA) ENSP00000370023.3:n.1620+196G=
ENST00000492433.1:c.78+196G= (HADHA) ENSP00000438039.1:n.78+196G=
NM_000182.4:c.1620+196G= (HADHA) NP_000173.2:n.1620+196G=
XM_011532567.1:c.1684-7337C= (GAREM2) XP_011530869.1:n.1684-7337C=
XM_011532567.3:c.1684-7337C= (GAREM2) XP_011530869.1:n.1684-7337C=
NM_000182.5:c.1620+196G= (HADHA) MANE Select NP_000173.2:n.1620+196G=