Canonical Allele Identifier: CA2658214613

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191127-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191127G>A , CM000664.2:g.26191127G>A	GRCh38
NC_000002.11:g.26413996G>A , CM000664.1:g.26413996G>A	GRCh37
NC_000002.10:g.26267500G>A	NCBI36
NG_007121.1:g.58494C>T
NG_007121.2:g.58495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*123C>T (HADHA) MANE Select	ENSP00000370023.3:n.*123C>T
ENST00000492433.2:c.*123C>T (HADHA)	ENSP00000438039.2:n.*123C>T
ENST00000643057.1:c.*2393C>T (HADHA)	ENSP00000493761.1:n.*2393C>T
ENST00000643063.1:c.*1461C>T (HADHA)	ENSP00000495353.1:n.*1461C>T
ENST00000643233.1:c.*2306C>T (HADHA)	ENSP00000493880.1:n.*2306C>T
ENST00000644428.1:c.*1039C>T (HADHA)	ENSP00000495560.1:n.*1039C>T
ENST00000645274.1:c.*123C>T (HADHA)	ENSP00000493996.1:n.*123C>T
ENST00000646031.1:c.1774C>T (HADHA)
ENST00000380649.7:c.*123C>T (HADHA)	ENSP00000370023.3:n.*123C>T
NM_000182.4:c.*123C>T (HADHA)	NP_000173.2:n.*123C>T
XM_011532567.1:c.1683+3812G>A (GAREM2)	XP_011530869.1:n.1683+3812G>A
XM_011532567.3:c.1683+3812G>A (GAREM2)	XP_011530869.1:n.1683+3812G>A
NM_000182.5:c.*123C>T (HADHA) MANE Select	NP_000173.2:n.*123C>T