Canonical Allele Identifier: CA9461117

Gene: BCKDHA

Linked Data

• dbSNP Id: rs199919277
• ExAC: 19:41919922 T / C
• gnomAD v2: 19-41919922-T-C
• gnomAD v3: 19-41414017-T-C
• gnomAD v4: 19-41414017-T-C
• MyVariant Identifiers: chr19:g.41919922T>C (hg19) ; chr19:g.41414017T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414017T>C , CM000681.2:g.41414017T>C	GRCh38
NC_000019.9:g.41919922T>C , CM000681.1:g.41919922T>C	GRCh37
NC_000019.8:g.46611762T>C	NCBI36
NG_013004.1:g.21229T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.376-32T>C MANE Select	ENSP00000269980.2:n.376-32T>C
ENST00000269980.6:c.376-32T>C	ENSP00000269980.2:n.376-32T>C
ENST00000457836.6:c.310-32T>C	ENSP00000416000.2:n.310-32T>C
ENST00000538423.5:n.502-32T>C
ENST00000540732.3:c.478-32T>C	ENSP00000443246.1:n.478-32T>C
ENST00000541315.1:c.183-32T>C
ENST00000542943.5:c.289-32T>C	ENSP00000440345.1:n.289-32T>C
ENST00000595085.5:c.376-32T>C	ENSP00000471150.2:n.376-32T>C
NM_000709.3:c.376-32T>C	NP_000700.1:n.376-32T>C
NM_001164783.1:c.376-32T>C	NP_001158255.1:n.376-32T>C
NM_000709.4:c.376-32T>C MANE Select	NP_000700.1:n.376-32T>C
NM_001164783.2:c.376-32T>C	NP_001158255.1:n.376-32T>C