Canonical Allele Identifier: CA2658215099

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26201133-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201133A>C , CM000664.2:g.26201133A>C	GRCh38
NC_000002.11:g.26424002A>C , CM000664.1:g.26424002A>C	GRCh37
NC_000002.10:g.26277506A>C	NCBI36
NG_007121.1:g.48488T>G
NG_007121.2:g.48489T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1392+16T>G (HADHA) MANE Select	ENSP00000370023.3:n.1392+16T>G
ENST00000492433.2:c.1392+16T>G (HADHA)	ENSP00000438039.2:n.1392+16T>G
ENST00000643057.1:c.*1283+16T>G (HADHA)	ENSP00000493761.1:n.*1283+16T>G
ENST00000643063.1:c.*438+16T>G (HADHA)	ENSP00000495353.1:n.*438+16T>G
ENST00000643233.1:c.*1283+16T>G (HADHA)	ENSP00000493880.1:n.*1283+16T>G
ENST00000644428.1:c.1392+16T>G (HADHA)	ENSP00000495560.1:n.1392+16T>G
ENST00000645274.1:c.1287+16T>G (HADHA)	ENSP00000493996.1:n.1287+16T>G
ENST00000646031.1:c.751+16T>G (HADHA)
ENST00000646483.1:c.1258+16T>G (HADHA)	ENSP00000496185.1:n.1258+16T>G
ENST00000380649.7:c.1392+16T>G (HADHA)	ENSP00000370023.3:n.1392+16T>G
NM_000182.4:c.1392+16T>G (HADHA)	NP_000173.2:n.1392+16T>G
XM_011532567.1:c.1684-1100A>C (GAREM2)	XP_011530869.1:n.1684-1100A>C
XM_011532567.3:c.1684-1100A>C (GAREM2)	XP_011530869.1:n.1684-1100A>C
NM_000182.5:c.1392+16T>G (HADHA) MANE Select	NP_000173.2:n.1392+16T>G