Canonical Allele Identifier: CA346129199

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26426993C>G (hg19) ; chr2:g.26204124C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204124C>G , CM000664.2:g.26204124C>G	GRCh38
NC_000002.11:g.26426993C>G , CM000664.1:g.26426993C>G	GRCh37
NC_000002.10:g.26280497C>G	NCBI36
NG_007121.1:g.45497G>C
NG_007121.2:g.45498G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1158G>C MANE Select	ENSP00000370023.3:p.Lys386Asn
ENST00000492433.2:c.1158G>C	ENSP00000438039.2:p.Lys386Asn
ENST00000643057.1:c.*1049G>C	ENSP00000493761.1:n.*1049G>C
ENST00000643063.1:c.*204G>C	ENSP00000495353.1:n.*204G>C
ENST00000643233.1:c.*1049G>C	ENSP00000493880.1:n.*1049G>C
ENST00000644428.1:c.1158G>C	ENSP00000495560.1:p.Lys386Asn
ENST00000645274.1:c.1053G>C	ENSP00000493996.1:p.Lys351Asn
ENST00000646031.1:c.517G>C
ENST00000646483.1:c.1024G>C	ENSP00000496185.1:n.1024G>C
ENST00000380649.7:c.1158G>C	ENSP00000370023.3:p.Lys386Asn
NM_000182.4:c.1158G>C	NP_000173.2:p.Lys386Asn
NM_000182.5:c.1158G>C MANE Select	NP_000173.2:p.Lys386Asn