Canonical Allele Identifier: CA507555755

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 3003112
• ClinVar RCV Id: RCV003867727
• dbSNP Id: rs1365978691
• gnomAD v2: 19-41916896-C-T
• gnomAD v3: 19-41410991-C-T
• gnomAD v4: 19-41410991-C-T
• MyVariant Identifiers: chr19:g.41916896C>T (hg19) ; chr19:g.41410991C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410991C>T , CM000681.2:g.41410991C>T	GRCh38
NC_000019.9:g.41916896C>T , CM000681.1:g.41916896C>T	GRCh37
NC_000019.8:g.46608736C>T	NCBI36
NG_013004.1:g.18203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.357C>T MANE Select	ENSP00000269980.2:p.Leu119=
ENST00000269980.6:c.357C>T	ENSP00000269980.2:p.Leu119=
ENST00000457836.6:c.291C>T	ENSP00000416000.2:p.Leu97=
ENST00000538423.5:n.483C>T
ENST00000540732.3:c.459C>T	ENSP00000443246.1:p.Leu153=
ENST00000541315.1:c.164C>T
ENST00000542943.5:c.288+175C>T	ENSP00000440345.1:n.288+175C>T
ENST00000595085.5:c.357C>T	ENSP00000471150.2:p.Leu119=
NM_000709.3:c.357C>T	NP_000700.1:p.Leu119=
NM_001164783.1:c.357C>T	NP_001158255.1:p.Leu119=
NM_000709.4:c.357C>T MANE Select	NP_000700.1:p.Leu119=
NM_001164783.2:c.357C>T	NP_001158255.1:p.Leu119=