Canonical Allele Identifier: CA2658214724

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191177-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191177A>C , CM000664.2:g.26191177A>C	GRCh38
NC_000002.11:g.26414046A>C , CM000664.1:g.26414046A>C	GRCh37
NC_000002.10:g.26267550A>C	NCBI36
NG_007121.1:g.58444T>G
NG_007121.2:g.58445T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*73T>G (HADHA) MANE Select	ENSP00000370023.3:n.*73T>G
ENST00000492433.2:c.*73T>G (HADHA)	ENSP00000438039.2:n.*73T>G
ENST00000643057.1:c.*2343T>G (HADHA)	ENSP00000493761.1:n.*2343T>G
ENST00000643063.1:c.*1411T>G (HADHA)	ENSP00000495353.1:n.*1411T>G
ENST00000643233.1:c.*2256T>G (HADHA)	ENSP00000493880.1:n.*2256T>G
ENST00000644428.1:c.*989T>G (HADHA)	ENSP00000495560.1:n.*989T>G
ENST00000645274.1:c.*73T>G (HADHA)	ENSP00000493996.1:n.*73T>G
ENST00000646031.1:c.1724T>G (HADHA)
ENST00000380649.7:c.*73T>G (HADHA)	ENSP00000370023.3:n.*73T>G
NM_000182.4:c.*73T>G (HADHA)	NP_000173.2:n.*73T>G
XM_011532567.1:c.1683+3862A>C (GAREM2)	XP_011530869.1:n.1683+3862A>C
XM_011532567.3:c.1683+3862A>C (GAREM2)	XP_011530869.1:n.1683+3862A>C
NM_000182.5:c.*73T>G (HADHA) MANE Select	NP_000173.2:n.*73T>G