Canonical Allele Identifier: CA2573134462

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1645392
• ClinVar RCV Id: RCV002143884
• dbSNP Id: rs2147748983

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191400A>G , CM000664.2:g.26191400A>G	GRCh38
NC_000002.11:g.26414269A>G , CM000664.1:g.26414269A>G	GRCh37
NC_000002.10:g.26267773A>G	NCBI36
NG_007121.1:g.58221T>C
NG_007121.2:g.58222T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2147-5T>C (HADHA) MANE Select	ENSP00000370023.3:n.2147-5T>C
ENST00000492433.2:c.2229T>C (HADHA)	ENSP00000438039.2:p.Tyr743=
ENST00000643057.1:c.*2120T>C (HADHA)	ENSP00000493761.1:n.*2120T>C
ENST00000643063.1:c.*1193-5T>C (HADHA)	ENSP00000495353.1:n.*1193-5T>C
ENST00000643233.1:c.*2038-5T>C (HADHA)	ENSP00000493880.1:n.*2038-5T>C
ENST00000644428.1:c.*771-5T>C (HADHA)	ENSP00000495560.1:n.*771-5T>C
ENST00000645274.1:c.2042-5T>C (HADHA)	ENSP00000493996.1:n.2042-5T>C
ENST00000646031.1:c.1506-5T>C (HADHA)
ENST00000646483.1:c.2013-5T>C (HADHA)	ENSP00000496185.1:n.2013-5T>C
ENST00000380649.7:c.2147-5T>C (HADHA)	ENSP00000370023.3:n.2147-5T>C
ENST00000492433.1:c.687T>C (HADHA)	ENSP00000438039.1:p.Tyr229=
NM_000182.4:c.2147-5T>C (HADHA)	NP_000173.2:n.2147-5T>C
XM_011532567.1:c.1683+4085A>G (GAREM2)	XP_011530869.1:n.1683+4085A>G
XM_011532567.3:c.1683+4085A>G (GAREM2)	XP_011530869.1:n.1683+4085A>G
NM_000182.5:c.2147-5T>C (HADHA) MANE Select	NP_000173.2:n.2147-5T>C