Canonical Allele Identifier: CA2658205385

Gene: HADHA

Linked Data

• gnomAD v4: 2-26204253-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204253A>C , CM000664.2:g.26204253A>C	GRCh38
NC_000002.11:g.26427122A>C , CM000664.1:g.26427122A>C	GRCh37
NC_000002.10:g.26280626A>C	NCBI36
NG_007121.1:g.45368T>G
NG_007121.2:g.45369T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1086-57T>G MANE Select	ENSP00000370023.3:n.1086-57T>G
ENST00000492433.2:c.1086-57T>G	ENSP00000438039.2:n.1086-57T>G
ENST00000643057.1:c.*977-57T>G	ENSP00000493761.1:n.*977-57T>G
ENST00000643063.1:c.*132-57T>G	ENSP00000495353.1:n.*132-57T>G
ENST00000643233.1:c.*977-57T>G	ENSP00000493880.1:n.*977-57T>G
ENST00000644428.1:c.1086-57T>G	ENSP00000495560.1:n.1086-57T>G
ENST00000645274.1:c.981-57T>G	ENSP00000493996.1:n.981-57T>G
ENST00000646031.1:c.445-57T>G
ENST00000646483.1:c.952-57T>G	ENSP00000496185.1:n.952-57T>G
ENST00000380649.7:c.1086-57T>G	ENSP00000370023.3:n.1086-57T>G
NM_000182.4:c.1086-57T>G	NP_000173.2:n.1086-57T>G
NM_000182.5:c.1086-57T>G MANE Select	NP_000173.2:n.1086-57T>G