Canonical Allele Identifier: CA2658214715

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191174-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191174G>A , CM000664.2:g.26191174G>A	GRCh38
NC_000002.11:g.26414043G>A , CM000664.1:g.26414043G>A	GRCh37
NC_000002.10:g.26267547G>A	NCBI36
NG_007121.1:g.58447C>T
NG_007121.2:g.58448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*76C>T (HADHA) MANE Select	ENSP00000370023.3:n.*76C>T
ENST00000492433.2:c.*76C>T (HADHA)	ENSP00000438039.2:n.*76C>T
ENST00000643057.1:c.*2346C>T (HADHA)	ENSP00000493761.1:n.*2346C>T
ENST00000643063.1:c.*1414C>T (HADHA)	ENSP00000495353.1:n.*1414C>T
ENST00000643233.1:c.*2259C>T (HADHA)	ENSP00000493880.1:n.*2259C>T
ENST00000644428.1:c.*992C>T (HADHA)	ENSP00000495560.1:n.*992C>T
ENST00000645274.1:c.*76C>T (HADHA)	ENSP00000493996.1:n.*76C>T
ENST00000646031.1:c.1727C>T (HADHA)
ENST00000380649.7:c.*76C>T (HADHA)	ENSP00000370023.3:n.*76C>T
NM_000182.4:c.*76C>T (HADHA)	NP_000173.2:n.*76C>T
XM_011532567.1:c.1683+3859G>A (GAREM2)	XP_011530869.1:n.1683+3859G>A
XM_011532567.3:c.1683+3859G>A (GAREM2)	XP_011530869.1:n.1683+3859G>A
NM_000182.5:c.*76C>T (HADHA) MANE Select	NP_000173.2:n.*76C>T