Canonical Allele Identifier: CA1239700716

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1669485684

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191201T>C , CM000664.2:g.26191201T>C	GRCh38
NC_000002.11:g.26414070T>C , CM000664.1:g.26414070T>C	GRCh37
NC_000002.10:g.26267574T>C	NCBI36
NG_007121.1:g.58420A>G
NG_007121.2:g.58421A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*49A>G (HADHA) MANE Select	ENSP00000370023.3:n.*49A>G
ENST00000492433.2:c.*49A>G (HADHA)	ENSP00000438039.2:n.*49A>G
ENST00000643057.1:c.*2319A>G (HADHA)	ENSP00000493761.1:n.*2319A>G
ENST00000643063.1:c.*1387A>G (HADHA)	ENSP00000495353.1:n.*1387A>G
ENST00000643233.1:c.*2232A>G (HADHA)	ENSP00000493880.1:n.*2232A>G
ENST00000644428.1:c.*965A>G (HADHA)	ENSP00000495560.1:n.*965A>G
ENST00000645274.1:c.*49A>G (HADHA)	ENSP00000493996.1:n.*49A>G
ENST00000646031.1:c.1700A>G (HADHA)
ENST00000380649.7:c.*49A>G (HADHA)	ENSP00000370023.3:n.*49A>G
NM_000182.4:c.*49A>G (HADHA)	NP_000173.2:n.*49A>G
XM_011532567.1:c.1683+3886T>C (GAREM2)	XP_011530869.1:n.1683+3886T>C
XM_011532567.3:c.1683+3886T>C (GAREM2)	XP_011530869.1:n.1683+3886T>C
NM_000182.5:c.*49A>G (HADHA) MANE Select	NP_000173.2:n.*49A>G