Canonical Allele Identifier: CA2576696575

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26192296-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192296T>G , CM000664.2:g.26192296T>G	GRCh38
NC_000002.11:g.26415165T>G , CM000664.1:g.26415165T>G	GRCh37
NC_000002.10:g.26268669T>G	NCBI36
NG_007121.1:g.57325A>C
NG_007121.2:g.57326A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.2000+14A>C (HADHA) MANE Select	ENSP00000370023.3:n.2000+14A>C
ENST00000492433.2:c.2000+14A>C (HADHA)	ENSP00000438039.2:n.2000+14A>C
ENST00000643057.1:c.*1891+14A>C (HADHA)	ENSP00000493761.1:n.*1891+14A>C
ENST00000643063.1:c.*1046+14A>C (HADHA)	ENSP00000495353.1:n.*1046+14A>C
ENST00000643233.1:c.*1891+14A>C (HADHA)	ENSP00000493880.1:n.*1891+14A>C
ENST00000644428.1:c.*624+14A>C (HADHA)	ENSP00000495560.1:n.*624+14A>C
ENST00000645274.1:c.1895+14A>C (HADHA)	ENSP00000493996.1:n.1895+14A>C
ENST00000646031.1:c.1359+14A>C (HADHA)
ENST00000646483.1:c.1866+14A>C (HADHA)	ENSP00000496185.1:n.1866+14A>C
ENST00000380649.7:c.2000+14A>C (HADHA)	ENSP00000370023.3:n.2000+14A>C
ENST00000492433.1:c.458+14A>C (HADHA)	ENSP00000438039.1:n.458+14A>C
NM_000182.4:c.2000+14A>C (HADHA)	NP_000173.2:n.2000+14A>C
XM_011532567.1:c.1683+4981T>G (GAREM2)	XP_011530869.1:n.1683+4981T>G
XM_011532567.3:c.1683+4981T>G (GAREM2)	XP_011530869.1:n.1683+4981T>G
NM_000182.5:c.2000+14A>C (HADHA) MANE Select	NP_000173.2:n.2000+14A>C