Canonical Allele Identifier: CA2585307998

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422391-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422391T>G , CM000681.2:g.41422391T>G	GRCh38
NC_000019.9:g.41928296T>G , CM000681.1:g.41928296T>G	GRCh37
NC_000019.8:g.46620136T>G	NCBI36
NG_013004.1:g.29603T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.853+21T>G MANE Select	ENSP00000269980.2:n.853+21T>G
ENST00000269980.6:c.853+21T>G	ENSP00000269980.2:n.853+21T>G
ENST00000457836.6:c.787+21T>G	ENSP00000416000.2:n.787+21T>G
ENST00000535632.5:n.482+21T>G
ENST00000540732.3:c.955+21T>G	ENSP00000443246.1:n.955+21T>G
ENST00000542943.5:c.766+21T>G	ENSP00000440345.1:n.766+21T>G
ENST00000545787.1:n.481+21T>G
ENST00000595085.5:c.853+21T>G	ENSP00000471150.2:n.853+21T>G
NM_000709.3:c.853+21T>G	NP_000700.1:n.853+21T>G
NM_001164783.1:c.853+21T>G	NP_001158255.1:n.853+21T>G
NM_000709.4:c.853+21T>G MANE Select	NP_000700.1:n.853+21T>G
NM_001164783.2:c.853+21T>G	NP_001158255.1:n.853+21T>G