Canonical Allele Identifier: CA531392423

Gene: HADHA

Linked Data

• dbSNP Id: rs1409859319
• gnomAD v2: 2-26427085-T-A
• gnomAD v3: 2-26204216-T-A
• gnomAD v4: 2-26204216-T-A
• MyVariant Identifiers: chr2:g.26427085T>A (hg19) ; chr2:g.26204216T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204216T>A , CM000664.2:g.26204216T>A	GRCh38
NC_000002.11:g.26427085T>A , CM000664.1:g.26427085T>A	GRCh37
NC_000002.10:g.26280589T>A	NCBI36
NG_007121.1:g.45405A>T
NG_007121.2:g.45406A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1086-20A>T MANE Select	ENSP00000370023.3:n.1086-20A>T
ENST00000492433.2:c.1086-20A>T	ENSP00000438039.2:n.1086-20A>T
ENST00000643057.1:c.*977-20A>T	ENSP00000493761.1:n.*977-20A>T
ENST00000643063.1:c.*132-20A>T	ENSP00000495353.1:n.*132-20A>T
ENST00000643233.1:c.*977-20A>T	ENSP00000493880.1:n.*977-20A>T
ENST00000644428.1:c.1086-20A>T	ENSP00000495560.1:n.1086-20A>T
ENST00000645274.1:c.981-20A>T	ENSP00000493996.1:n.981-20A>T
ENST00000646031.1:c.445-20A>T
ENST00000646483.1:c.952-20A>T	ENSP00000496185.1:n.952-20A>T
ENST00000380649.7:c.1086-20A>T	ENSP00000370023.3:n.1086-20A>T
NM_000182.4:c.1086-20A>T	NP_000173.2:n.1086-20A>T
NM_000182.5:c.1086-20A>T MANE Select	NP_000173.2:n.1086-20A>T