Canonical Allele Identifier: CA44385985

Gene: HADHA

Linked Data

• dbSNP Id: rs926177989
• gnomAD v2: 2-26426755-A-G
• MyVariant Identifiers: chr2:g.26426755A>G (hg19) ; chr2:g.26203886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26203886A>G , CM000664.2:g.26203886A>G	GRCh38
NC_000002.11:g.26426755A>G , CM000664.1:g.26426755A>G	GRCh37
NC_000002.10:g.26280259A>G	NCBI36
NG_007121.1:g.45735T>C
NG_007121.2:g.45736T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+176T>C MANE Select	ENSP00000370023.3:n.1220+176T>C
ENST00000492433.2:c.1220+176T>C	ENSP00000438039.2:n.1220+176T>C
ENST00000643057.1:c.*1111+176T>C	ENSP00000493761.1:n.*1111+176T>C
ENST00000643063.1:c.*266+176T>C	ENSP00000495353.1:n.*266+176T>C
ENST00000643233.1:c.*1111+176T>C	ENSP00000493880.1:n.*1111+176T>C
ENST00000644428.1:c.1220+176T>C	ENSP00000495560.1:n.1220+176T>C
ENST00000645274.1:c.1115+176T>C	ENSP00000493996.1:n.1115+176T>C
ENST00000646031.1:c.579+176T>C
ENST00000646483.1:c.1086+176T>C	ENSP00000496185.1:n.1086+176T>C
ENST00000380649.7:c.1220+176T>C	ENSP00000370023.3:n.1220+176T>C
NM_000182.4:c.1220+176T>C	NP_000173.2:n.1220+176T>C
NM_000182.5:c.1220+176T>C MANE Select	NP_000173.2:n.1220+176T>C