Canonical Allele Identifier: CA2580097313

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2007568
• ClinVar RCV Id: RCV002816368
• gnomAD v4: 19-41422780-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422780G>C , CM000681.2:g.41422780G>C	GRCh38
NC_000019.9:g.41928685G>C , CM000681.1:g.41928685G>C	GRCh37
NC_000019.8:g.46620525G>C	NCBI36
NG_013004.1:g.29992G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.995+10G>C MANE Select	ENSP00000269980.2:n.995+10G>C
ENST00000269980.6:c.995+10G>C	ENSP00000269980.2:n.995+10G>C
ENST00000457836.6:c.929+10G>C	ENSP00000416000.2:n.929+10G>C
ENST00000540732.3:c.1097+10G>C	ENSP00000443246.1:n.1097+10G>C
ENST00000542943.5:c.908+10G>C	ENSP00000440345.1:n.908+10G>C
ENST00000595085.5:c.922+83G>C	ENSP00000471150.2:n.922+83G>C
NM_000709.3:c.995+10G>C	NP_000700.1:n.995+10G>C
NM_001164783.1:c.992+10G>C	NP_001158255.1:n.992+10G>C
NM_000709.4:c.995+10G>C MANE Select	NP_000700.1:n.995+10G>C
NM_001164783.2:c.992+10G>C	NP_001158255.1:n.992+10G>C