Canonical Allele Identifier: CA308525006

Gene: BCKDHA

Linked Data

• dbSNP Id: rs769448462
• gnomAD v2: 19-41928738-A-C
• gnomAD v3: 19-41422833-A-C
• gnomAD v4: 19-41422833-A-C
• MyVariant Identifiers: chr19:g.41928738A>C (hg19) ; chr19:g.41422833A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422833A>C , CM000681.2:g.41422833A>C	GRCh38
NC_000019.9:g.41928738A>C , CM000681.1:g.41928738A>C	GRCh37
NC_000019.8:g.46620578A>C	NCBI36
NG_013004.1:g.30045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.995+63A>C MANE Select	ENSP00000269980.2:n.995+63A>C
ENST00000269980.6:c.995+63A>C	ENSP00000269980.2:n.995+63A>C
ENST00000457836.6:c.929+63A>C	ENSP00000416000.2:n.929+63A>C
ENST00000540732.3:c.1097+63A>C	ENSP00000443246.1:n.1097+63A>C
ENST00000542943.5:c.908+63A>C	ENSP00000440345.1:n.908+63A>C
ENST00000595085.5:c.922+136A>C	ENSP00000471150.2:n.922+136A>C
NM_000709.3:c.995+63A>C	NP_000700.1:n.995+63A>C
NM_001164783.1:c.992+63A>C	NP_001158255.1:n.992+63A>C
NM_000709.4:c.995+63A>C MANE Select	NP_000700.1:n.995+63A>C
NM_001164783.2:c.992+63A>C	NP_001158255.1:n.992+63A>C