Canonical Allele Identifier: CA2658215419

Gene: HADHA

Linked Data

• gnomAD v4: 2-26203990-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26203990G>T , CM000664.2:g.26203990G>T	GRCh38
NC_000002.11:g.26426859G>T , CM000664.1:g.26426859G>T	GRCh37
NC_000002.10:g.26280363G>T	NCBI36
NG_007121.1:g.45631C>A
NG_007121.2:g.45632C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1220+72C>A MANE Select	ENSP00000370023.3:n.1220+72C>A
ENST00000492433.2:c.1220+72C>A	ENSP00000438039.2:n.1220+72C>A
ENST00000643057.1:c.*1111+72C>A	ENSP00000493761.1:n.*1111+72C>A
ENST00000643063.1:c.*266+72C>A	ENSP00000495353.1:n.*266+72C>A
ENST00000643233.1:c.*1111+72C>A	ENSP00000493880.1:n.*1111+72C>A
ENST00000644428.1:c.1220+72C>A	ENSP00000495560.1:n.1220+72C>A
ENST00000645274.1:c.1115+72C>A	ENSP00000493996.1:n.1115+72C>A
ENST00000646031.1:c.579+72C>A
ENST00000646483.1:c.1086+72C>A	ENSP00000496185.1:n.1086+72C>A
ENST00000380649.7:c.1220+72C>A	ENSP00000370023.3:n.1220+72C>A
NM_000182.4:c.1220+72C>A	NP_000173.2:n.1220+72C>A
NM_000182.5:c.1220+72C>A MANE Select	NP_000173.2:n.1220+72C>A