Canonical Allele Identifier: CA406006091

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1444208
• ClinVar RCV Id: RCV001955851
• dbSNP Id: rs752700457
• MyVariant Identifiers: chr19:g.41916910G>C (hg19) ; chr19:g.41411005G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411005G>C , CM000681.2:g.41411005G>C	GRCh38
NC_000019.9:g.41916910G>C , CM000681.1:g.41916910G>C	GRCh37
NC_000019.8:g.46608750G>C	NCBI36
NG_013004.1:g.18217G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.371G>C MANE Select	ENSP00000269980.2:p.Arg124Pro
ENST00000269980.6:c.371G>C	ENSP00000269980.2:p.Arg124Pro
ENST00000457836.6:c.305G>C	ENSP00000416000.2:p.Arg102Pro
ENST00000538423.5:n.497G>C
ENST00000540732.3:c.473G>C	ENSP00000443246.1:p.Arg158Pro
ENST00000541315.1:c.178G>C
ENST00000542943.5:c.288+189G>C	ENSP00000440345.1:n.288+189G>C
ENST00000595085.5:c.371G>C	ENSP00000471150.2:p.Arg124Pro
NM_000709.3:c.371G>C	NP_000700.1:p.Arg124Pro
NM_001164783.1:c.371G>C	NP_001158255.1:p.Arg124Pro
NM_000709.4:c.371G>C MANE Select	NP_000700.1:p.Arg124Pro
NM_001164783.2:c.371G>C	NP_001158255.1:p.Arg124Pro