Canonical Allele Identifier: CA346129318

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26427002C>A (hg19) ; chr2:g.26204133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204133C>A , CM000664.2:g.26204133C>A	GRCh38
NC_000002.11:g.26427002C>A , CM000664.1:g.26427002C>A	GRCh37
NC_000002.10:g.26280506C>A	NCBI36
NG_007121.1:g.45488G>T
NG_007121.2:g.45489G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1149G>T MANE Select	ENSP00000370023.3:p.Lys383Asn
ENST00000492433.2:c.1149G>T	ENSP00000438039.2:p.Lys383Asn
ENST00000643057.1:c.*1040G>T	ENSP00000493761.1:n.*1040G>T
ENST00000643063.1:c.*195G>T	ENSP00000495353.1:n.*195G>T
ENST00000643233.1:c.*1040G>T	ENSP00000493880.1:n.*1040G>T
ENST00000644428.1:c.1149G>T	ENSP00000495560.1:p.Lys383Asn
ENST00000645274.1:c.1044G>T	ENSP00000493996.1:p.Lys348Asn
ENST00000646031.1:c.508G>T
ENST00000646483.1:c.1015G>T	ENSP00000496185.1:n.1015G>T
ENST00000380649.7:c.1149G>T	ENSP00000370023.3:p.Lys383Asn
NM_000182.4:c.1149G>T	NP_000173.2:p.Lys383Asn
NM_000182.5:c.1149G>T MANE Select	NP_000173.2:p.Lys383Asn