Canonical Allele Identifier: CA406004430

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1254167050
• gnomAD v4: 19-41410638-A-C
• MyVariant Identifiers: chr19:g.41916543A>C (hg19) ; chr19:g.41410638A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410638A>C , CM000681.2:g.41410638A>C	GRCh38
NC_000019.9:g.41916543A>C , CM000681.1:g.41916543A>C	GRCh37
NC_000019.8:g.46608383A>C	NCBI36
NG_013004.1:g.17850A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.110A>C MANE Select	ENSP00000269980.2:p.His37Pro
ENST00000269980.6:c.110A>C	ENSP00000269980.2:p.His37Pro
ENST00000457836.6:c.58-14A>C	ENSP00000416000.2:n.58-14A>C
ENST00000538423.5:n.130A>C
ENST00000540732.3:c.212A>C	ENSP00000443246.1:p.His71Pro
ENST00000542943.5:c.110A>C	ENSP00000440345.1:p.His37Pro
ENST00000595085.5:c.110A>C	ENSP00000471150.2:p.His37Pro
ENST00000604424.1:n.352A>C
NM_000709.3:c.110A>C	NP_000700.1:p.His37Pro
NM_001164783.1:c.110A>C	NP_001158255.1:p.His37Pro
NM_000709.4:c.110A>C MANE Select	NP_000700.1:p.His37Pro
NM_001164783.2:c.110A>C	NP_001158255.1:p.His37Pro