Canonical Allele Identifier: CA308523917

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1041835144
• gnomAD v2: 19-41927971-G-A
• gnomAD v3: 19-41422066-G-A
• gnomAD v4: 19-41422066-G-A
• MyVariant Identifiers: chr19:g.41927971G>A (hg19) ; chr19:g.41422066G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422066G>A , CM000681.2:g.41422066G>A	GRCh38
NC_000019.9:g.41927971G>A , CM000681.1:g.41927971G>A	GRCh37
NC_000019.8:g.46619811G>A	NCBI36
NG_013004.1:g.29278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.647-98G>A MANE Select	ENSP00000269980.2:n.647-98G>A
ENST00000269980.6:c.647-98G>A	ENSP00000269980.2:n.647-98G>A
ENST00000457836.6:c.581-98G>A	ENSP00000416000.2:n.581-98G>A
ENST00000535632.5:n.276-98G>A
ENST00000538423.5:n.773-98G>A
ENST00000540732.3:c.749-98G>A	ENSP00000443246.1:n.749-98G>A
ENST00000541315.1:c.547-98G>A
ENST00000542943.5:c.560-98G>A	ENSP00000440345.1:n.560-98G>A
ENST00000545787.1:n.275-98G>A
ENST00000595085.5:c.647-98G>A	ENSP00000471150.2:n.647-98G>A
NM_000709.3:c.647-98G>A	NP_000700.1:n.647-98G>A
NM_001164783.1:c.647-98G>A	NP_001158255.1:n.647-98G>A
NM_000709.4:c.647-98G>A MANE Select	NP_000700.1:n.647-98G>A
NM_001164783.2:c.647-98G>A	NP_001158255.1:n.647-98G>A