Canonical Allele Identifier: CA2658214855

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191230-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191230G>T , CM000664.2:g.26191230G>T	GRCh38
NC_000002.11:g.26414099G>T , CM000664.1:g.26414099G>T	GRCh37
NC_000002.10:g.26267603G>T	NCBI36
NG_007121.1:g.58391C>A
NG_007121.2:g.58392C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*20C>A (HADHA) MANE Select	ENSP00000370023.3:n.*20C>A
ENST00000492433.2:c.*20C>A (HADHA)	ENSP00000438039.2:n.*20C>A
ENST00000643057.1:c.*2290C>A (HADHA)	ENSP00000493761.1:n.*2290C>A
ENST00000643063.1:c.*1358C>A (HADHA)	ENSP00000495353.1:n.*1358C>A
ENST00000643233.1:c.*2203C>A (HADHA)	ENSP00000493880.1:n.*2203C>A
ENST00000644428.1:c.*936C>A (HADHA)	ENSP00000495560.1:n.*936C>A
ENST00000645274.1:c.*20C>A (HADHA)	ENSP00000493996.1:n.*20C>A
ENST00000646031.1:c.1671C>A (HADHA)
ENST00000380649.7:c.*20C>A (HADHA)	ENSP00000370023.3:n.*20C>A
NM_000182.4:c.*20C>A (HADHA)	NP_000173.2:n.*20C>A
XM_011532567.1:c.1683+3915G>T (GAREM2)	XP_011530869.1:n.1683+3915G>T
XM_011532567.3:c.1683+3915G>T (GAREM2)	XP_011530869.1:n.1683+3915G>T
NM_000182.5:c.*20C>A (HADHA) MANE Select	NP_000173.2:n.*20C>A