Canonical Allele Identifier: CA346126969

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26201270-G-T
• MyVariant Identifiers: chr2:g.26424139G>T (hg19) ; chr2:g.26201270G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201270G>T , CM000664.2:g.26201270G>T	GRCh38
NC_000002.11:g.26424139G>T , CM000664.1:g.26424139G>T	GRCh37
NC_000002.10:g.26277643G>T	NCBI36
NG_007121.1:g.48351C>A
NG_007121.2:g.48352C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1271C>A (HADHA) MANE Select	ENSP00000370023.3:p.Ser424Tyr
ENST00000492433.2:c.1271C>A (HADHA)	ENSP00000438039.2:p.Ser424Tyr
ENST00000643057.1:c.*1162C>A (HADHA)	ENSP00000493761.1:n.*1162C>A
ENST00000643063.1:c.*317C>A (HADHA)	ENSP00000495353.1:n.*317C>A
ENST00000643233.1:c.*1162C>A (HADHA)	ENSP00000493880.1:n.*1162C>A
ENST00000644428.1:c.1271C>A (HADHA)	ENSP00000495560.1:p.Ser424Tyr
ENST00000645274.1:c.1166C>A (HADHA)	ENSP00000493996.1:p.Ser389Tyr
ENST00000646031.1:c.630C>A (HADHA)
ENST00000646483.1:c.1137C>A (HADHA)	ENSP00000496185.1:n.1137C>A
ENST00000380649.7:c.1271C>A (HADHA)	ENSP00000370023.3:p.Ser424Tyr
NM_000182.4:c.1271C>A (HADHA)	NP_000173.2:p.Ser424Tyr
XM_011532567.1:c.1684-963G>T (GAREM2)	XP_011530869.1:n.1684-963G>T
XM_011532567.3:c.1684-963G>T (GAREM2)	XP_011530869.1:n.1684-963G>T
NM_000182.5:c.1271C>A (HADHA) MANE Select	NP_000173.2:p.Ser424Tyr