Canonical Allele Identifier: CA9461229

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 431985
• ClinVar RCV Id: RCV000498679 ; RCV000670031
• dbSNP Id: rs753216964
• ExAC: 19:41928068 G / C
• gnomAD v2: 19-41928068-G-C
• gnomAD v3: 19-41422163-G-C
• gnomAD v4: 19-41422163-G-C
• MyVariant Identifiers: chr19:g.41928068G>C (hg19) ; chr19:g.41422163G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422163G>C , CM000681.2:g.41422163G>C	GRCh38
NC_000019.9:g.41928068G>C , CM000681.1:g.41928068G>C	GRCh37
NC_000019.8:g.46619908G>C	NCBI36
NG_013004.1:g.29375G>C

Transcript Alleles

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