Canonical Allele Identifier: CA2594477397

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs2147749175
• gnomAD v3: 2-26191469-C-T
• gnomAD v4: 2-26191469-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191469C>T , CM000664.2:g.26191469C>T	GRCh38
NC_000002.11:g.26414338C>T , CM000664.1:g.26414338C>T	GRCh37
NC_000002.10:g.26267842C>T	NCBI36
NG_007121.1:g.58152G>A
NG_007121.2:g.58153G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2146+14G>A (HADHA) MANE Select	ENSP00000370023.3:n.2146+14G>A
ENST00000492433.2:c.2160G>A (HADHA)	ENSP00000438039.2:p.Arg720=
ENST00000643057.1:c.*2051G>A (HADHA)	ENSP00000493761.1:n.*2051G>A
ENST00000643063.1:c.*1192+14G>A (HADHA)	ENSP00000495353.1:n.*1192+14G>A
ENST00000643233.1:c.*2037+14G>A (HADHA)	ENSP00000493880.1:n.*2037+14G>A
ENST00000644428.1:c.*770+14G>A (HADHA)	ENSP00000495560.1:n.*770+14G>A
ENST00000645274.1:c.2041+14G>A (HADHA)	ENSP00000493996.1:n.2041+14G>A
ENST00000646031.1:c.1505+14G>A (HADHA)
ENST00000646483.1:c.2012+14G>A (HADHA)	ENSP00000496185.1:n.2012+14G>A
ENST00000380649.7:c.2146+14G>A (HADHA)	ENSP00000370023.3:n.2146+14G>A
ENST00000492433.1:c.618G>A (HADHA)	ENSP00000438039.1:p.Arg206=
NM_000182.4:c.2146+14G>A (HADHA)	NP_000173.2:n.2146+14G>A
XM_011532567.1:c.1683+4154C>T (GAREM2)	XP_011530869.1:n.1683+4154C>T
XM_011532567.3:c.1683+4154C>T (GAREM2)	XP_011530869.1:n.1683+4154C>T
NM_000182.5:c.2146+14G>A (HADHA) MANE Select	NP_000173.2:n.2146+14G>A