Canonical Allele Identifier: CA2585308353

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41424295-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424295C>G , CM000681.2:g.41424295C>G	GRCh38
NC_000019.9:g.41930200C>G , CM000681.1:g.41930200C>G	GRCh37
NC_000019.8:g.46622040C>G	NCBI36
NG_013004.1:g.31507C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1168-143C>G MANE Select	ENSP00000269980.2:n.1168-143C>G
ENST00000269980.6:c.1168-143C>G	ENSP00000269980.2:n.1168-143C>G
ENST00000457836.6:c.1177-143C>G	ENSP00000416000.2:n.1177-143C>G
ENST00000540732.3:c.1270-143C>G	ENSP00000443246.1:n.1270-143C>G
ENST00000544905.1:c.62-207C>G
ENST00000595085.5:c.922+1598C>G	ENSP00000471150.2:n.922+1598C>G
NM_000709.3:c.1168-143C>G	NP_000700.1:n.1168-143C>G
NM_001164783.1:c.1165-143C>G	NP_001158255.1:n.1165-143C>G
NM_000709.4:c.1168-143C>G MANE Select	NP_000700.1:n.1168-143C>G
NM_001164783.2:c.1165-143C>G	NP_001158255.1:n.1165-143C>G