Canonical Allele Identifier: CA2585307901

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422043-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422043C>G , CM000681.2:g.41422043C>G	GRCh38
NC_000019.9:g.41927948C>G , CM000681.1:g.41927948C>G	GRCh37
NC_000019.8:g.46619788C>G	NCBI36
NG_013004.1:g.29255C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.647-121C>G MANE Select	ENSP00000269980.2:n.647-121C>G
ENST00000269980.6:c.647-121C>G	ENSP00000269980.2:n.647-121C>G
ENST00000457836.6:c.581-121C>G	ENSP00000416000.2:n.581-121C>G
ENST00000535632.5:n.276-121C>G
ENST00000538423.5:n.773-121C>G
ENST00000540732.3:c.749-121C>G	ENSP00000443246.1:n.749-121C>G
ENST00000541315.1:c.547-121C>G
ENST00000542943.5:c.560-121C>G	ENSP00000440345.1:n.560-121C>G
ENST00000545787.1:n.275-121C>G
ENST00000595085.5:c.647-121C>G	ENSP00000471150.2:n.647-121C>G
NM_000709.3:c.647-121C>G	NP_000700.1:n.647-121C>G
NM_001164783.1:c.647-121C>G	NP_001158255.1:n.647-121C>G
NM_000709.4:c.647-121C>G MANE Select	NP_000700.1:n.647-121C>G
NM_001164783.2:c.647-121C>G	NP_001158255.1:n.647-121C>G