Canonical Allele Identifier: CA2658214765

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191197-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191197G>T , CM000664.2:g.26191197G>T	GRCh38
NC_000002.11:g.26414066G>T , CM000664.1:g.26414066G>T	GRCh37
NC_000002.10:g.26267570G>T	NCBI36
NG_007121.1:g.58424C>A
NG_007121.2:g.58425C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*53C>A (HADHA) MANE Select	ENSP00000370023.3:n.*53C>A
ENST00000492433.2:c.*53C>A (HADHA)	ENSP00000438039.2:n.*53C>A
ENST00000643057.1:c.*2323C>A (HADHA)	ENSP00000493761.1:n.*2323C>A
ENST00000643063.1:c.*1391C>A (HADHA)	ENSP00000495353.1:n.*1391C>A
ENST00000643233.1:c.*2236C>A (HADHA)	ENSP00000493880.1:n.*2236C>A
ENST00000644428.1:c.*969C>A (HADHA)	ENSP00000495560.1:n.*969C>A
ENST00000645274.1:c.*53C>A (HADHA)	ENSP00000493996.1:n.*53C>A
ENST00000646031.1:c.1704C>A (HADHA)
ENST00000380649.7:c.*53C>A (HADHA)	ENSP00000370023.3:n.*53C>A
NM_000182.4:c.*53C>A (HADHA)	NP_000173.2:n.*53C>A
XM_011532567.1:c.1683+3882G>T (GAREM2)	XP_011530869.1:n.1683+3882G>T
XM_011532567.3:c.1683+3882G>T (GAREM2)	XP_011530869.1:n.1683+3882G>T
NM_000182.5:c.*53C>A (HADHA) MANE Select	NP_000173.2:n.*53C>A