Canonical Allele Identifier: CA2580066177

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2002248
• ClinVar RCV Id: RCV002820257

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195073C>T , CM000664.2:g.26195073C>T	GRCh38
NC_000002.11:g.26417942C>T , CM000664.1:g.26417942C>T	GRCh37
NC_000002.10:g.26271446C>T	NCBI36
NG_007121.1:g.54548G>A
NG_007121.2:g.54549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1620+19G>A (HADHA) MANE Select	ENSP00000370023.3:n.1620+19G>A
ENST00000492433.2:c.1620+19G>A (HADHA)	ENSP00000438039.2:n.1620+19G>A
ENST00000643057.1:c.*1511+19G>A (HADHA)	ENSP00000493761.1:n.*1511+19G>A
ENST00000643063.1:c.*666+19G>A (HADHA)	ENSP00000495353.1:n.*666+19G>A
ENST00000643233.1:c.*1511+19G>A (HADHA)	ENSP00000493880.1:n.*1511+19G>A
ENST00000644428.1:c.*244+19G>A (HADHA)	ENSP00000495560.1:n.*244+19G>A
ENST00000645274.1:c.1515+19G>A (HADHA)	ENSP00000493996.1:n.1515+19G>A
ENST00000646031.1:c.979+19G>A (HADHA)
ENST00000646483.1:c.1486+19G>A (HADHA)	ENSP00000496185.1:n.1486+19G>A
ENST00000380649.7:c.1620+19G>A (HADHA)	ENSP00000370023.3:n.1620+19G>A
ENST00000492433.1:c.78+19G>A (HADHA)	ENSP00000438039.1:n.78+19G>A
NM_000182.4:c.1620+19G>A (HADHA)	NP_000173.2:n.1620+19G>A
XM_011532567.1:c.1684-7160C>T (GAREM2)	XP_011530869.1:n.1684-7160C>T
XM_011532567.3:c.1684-7160C>T (GAREM2)	XP_011530869.1:n.1684-7160C>T
NM_000182.5:c.1620+19G>A (HADHA) MANE Select	NP_000173.2:n.1620+19G>A