Canonical Allele Identifier: CA2658213756

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2946075
• ClinVar RCV Id: RCV003806361
• gnomAD v4: 2-26197674-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26197674C>T , CM000664.2:g.26197674C>T	GRCh38
NC_000002.11:g.26420543C>T , CM000664.1:g.26420543C>T	GRCh37
NC_000002.10:g.26274047C>T	NCBI36
NG_007121.1:g.51947G>A
NG_007121.2:g.51948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1479+17G>A (HADHA) MANE Select	ENSP00000370023.3:n.1479+17G>A
ENST00000492433.2:c.1479+17G>A (HADHA)	ENSP00000438039.2:n.1479+17G>A
ENST00000643057.1:c.*1370+17G>A (HADHA)	ENSP00000493761.1:n.*1370+17G>A
ENST00000643063.1:c.*525+17G>A (HADHA)	ENSP00000495353.1:n.*525+17G>A
ENST00000643233.1:c.*1370+17G>A (HADHA)	ENSP00000493880.1:n.*1370+17G>A
ENST00000644428.1:c.*103+17G>A (HADHA)	ENSP00000495560.1:n.*103+17G>A
ENST00000645274.1:c.1374+17G>A (HADHA)	ENSP00000493996.1:n.1374+17G>A
ENST00000646031.1:c.838+17G>A (HADHA)
ENST00000646483.1:c.1345+17G>A (HADHA)	ENSP00000496185.1:n.1345+17G>A
ENST00000380649.7:c.1479+17G>A (HADHA)	ENSP00000370023.3:n.1479+17G>A
NM_000182.4:c.1479+17G>A (HADHA)	NP_000173.2:n.1479+17G>A
XM_011532567.1:c.1684-4559C>T (GAREM2)	XP_011530869.1:n.1684-4559C>T
XM_011532567.3:c.1684-4559C>T (GAREM2)	XP_011530869.1:n.1684-4559C>T
NM_000182.5:c.1479+17G>A (HADHA) MANE Select	NP_000173.2:n.1479+17G>A