Canonical Allele Identifier: CA1028586078

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1669526587
• gnomAD v3: 2-26192190-C-G
• gnomAD v4: 2-26192190-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192190C>G , CM000664.2:g.26192190C>G	GRCh38
NC_000002.11:g.26415059C>G , CM000664.1:g.26415059C>G	GRCh37
NC_000002.10:g.26268563C>G	NCBI36
NG_007121.1:g.57431G>C
NG_007121.2:g.57432G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2000+120G>C (HADHA) MANE Select	ENSP00000370023.3:n.2000+120G>C
ENST00000492433.2:c.2000+120G>C (HADHA)	ENSP00000438039.2:n.2000+120G>C
ENST00000643057.1:c.*1891+120G>C (HADHA)	ENSP00000493761.1:n.*1891+120G>C
ENST00000643063.1:c.*1046+120G>C (HADHA)	ENSP00000495353.1:n.*1046+120G>C
ENST00000643233.1:c.*1891+120G>C (HADHA)	ENSP00000493880.1:n.*1891+120G>C
ENST00000644428.1:c.*624+120G>C (HADHA)	ENSP00000495560.1:n.*624+120G>C
ENST00000645274.1:c.1895+120G>C (HADHA)	ENSP00000493996.1:n.1895+120G>C
ENST00000646031.1:c.1359+120G>C (HADHA)
ENST00000646483.1:c.1866+120G>C (HADHA)	ENSP00000496185.1:n.1866+120G>C
ENST00000380649.7:c.2000+120G>C (HADHA)	ENSP00000370023.3:n.2000+120G>C
ENST00000492433.1:c.458+120G>C (HADHA)	ENSP00000438039.1:n.458+120G>C
NM_000182.4:c.2000+120G>C (HADHA)	NP_000173.2:n.2000+120G>C
XM_011532567.1:c.1683+4875C>G (GAREM2)	XP_011530869.1:n.1683+4875C>G
XM_011532567.3:c.1683+4875C>G (GAREM2)	XP_011530869.1:n.1683+4875C>G
NM_000182.5:c.2000+120G>C (HADHA) MANE Select	NP_000173.2:n.2000+120G>C