Canonical Allele Identifier: CA2658210175

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191448-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191448T>C , CM000664.2:g.26191448T>C	GRCh38
NC_000002.11:g.26414317T>C , CM000664.1:g.26414317T>C	GRCh37
NC_000002.10:g.26267821T>C	NCBI36
NG_007121.1:g.58173A>G
NG_007121.2:g.58174A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2146+35A>G (HADHA) MANE Select	ENSP00000370023.3:n.2146+35A>G
ENST00000492433.2:c.2181A>G (HADHA)	ENSP00000438039.2:p.Leu727=
ENST00000643057.1:c.*2072A>G (HADHA)	ENSP00000493761.1:n.*2072A>G
ENST00000643063.1:c.*1192+35A>G (HADHA)	ENSP00000495353.1:n.*1192+35A>G
ENST00000643233.1:c.*2037+35A>G (HADHA)	ENSP00000493880.1:n.*2037+35A>G
ENST00000644428.1:c.*770+35A>G (HADHA)	ENSP00000495560.1:n.*770+35A>G
ENST00000645274.1:c.2041+35A>G (HADHA)	ENSP00000493996.1:n.2041+35A>G
ENST00000646031.1:c.1505+35A>G (HADHA)
ENST00000646483.1:c.2012+35A>G (HADHA)	ENSP00000496185.1:n.2012+35A>G
ENST00000380649.7:c.2146+35A>G (HADHA)	ENSP00000370023.3:n.2146+35A>G
ENST00000492433.1:c.639A>G (HADHA)	ENSP00000438039.1:p.Leu213=
NM_000182.4:c.2146+35A>G (HADHA)	NP_000173.2:n.2146+35A>G
XM_011532567.1:c.1683+4133T>C (GAREM2)	XP_011530869.1:n.1683+4133T>C
XM_011532567.3:c.1683+4133T>C (GAREM2)	XP_011530869.1:n.1683+4133T>C
NM_000182.5:c.2146+35A>G (HADHA) MANE Select	NP_000173.2:n.2146+35A>G