Canonical Allele Identifier: CA531381786

Gene: HADHA

Linked Data

• dbSNP Id: rs1356029737
• gnomAD v2: 2-26461785-C-T
• gnomAD v4: 2-26238917-C-T
• MyVariant Identifiers: chr2:g.26461785C>T (hg19) ; chr2:g.26238917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26238917C>T , CM000664.2:g.26238917C>T	GRCh38
NC_000002.11:g.26461785C>T , CM000664.1:g.26461785C>T	GRCh37
NC_000002.10:g.26315289C>T	NCBI36
NG_007121.1:g.10705G>A
NG_007121.2:g.10705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.180+17G>A MANE Select	ENSP00000370023.3:n.180+17G>A
ENST00000471743.2:n.191+17G>A
ENST00000492433.2:c.180+17G>A	ENSP00000438039.2:n.180+17G>A
ENST00000643057.1:c.*71+17G>A	ENSP00000493761.1:n.*71+17G>A
ENST00000643063.1:c.180+17G>A	ENSP00000495353.1:n.180+17G>A
ENST00000643233.1:c.*71+17G>A	ENSP00000493880.1:n.*71+17G>A
ENST00000644428.1:c.180+17G>A	ENSP00000495560.1:n.180+17G>A
ENST00000645274.1:c.180+17G>A	ENSP00000493996.1:n.180+17G>A
ENST00000646483.1:c.180+17G>A	ENSP00000496185.1:n.180+17G>A
ENST00000380649.7:c.180+17G>A	ENSP00000370023.3:n.180+17G>A
NM_000182.4:c.180+17G>A	NP_000173.2:n.180+17G>A
NM_000182.5:c.180+17G>A MANE Select	NP_000173.2:n.180+17G>A