Canonical Allele Identifier: CA9461239

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2050562
• ClinVar RCV Id: RCV002904501 ; RCV003984285
• dbSNP Id: rs1326623899
• ExAC: 19:41928095 C / T
• gnomAD v2: 19-41928095-C-T
• gnomAD v3: 19-41422190-C-T
• gnomAD v4: 19-41422190-C-T
• MyVariant Identifiers: chr19:g.41928095C>T (hg19) ; chr19:g.41928095_41928096delinsTG (hg19) ; chr19:g.41422190C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422190C>T , CM000681.2:g.41422190C>T	GRCh38
NC_000019.9:g.41928095C>T , CM000681.1:g.41928095C>T	GRCh37
NC_000019.8:g.46619935C>T	NCBI36
NG_013004.1:g.29402C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.673C>T MANE Select	ENSP00000269980.2:p.Arg225Trp
ENST00000269980.6:c.673C>T	ENSP00000269980.2:p.Arg225Trp
ENST00000457836.6:c.607C>T	ENSP00000416000.2:p.Arg203Trp
ENST00000535632.5:n.302C>T
ENST00000538423.5:n.799C>T
ENST00000540732.3:c.775C>T	ENSP00000443246.1:p.Arg259Trp
ENST00000541315.1:c.573C>T
ENST00000542943.5:c.586C>T	ENSP00000440345.1:p.Arg196Trp
ENST00000545787.1:n.301C>T
ENST00000595085.5:c.673C>T	ENSP00000471150.2:p.Arg225Trp
NM_000709.3:c.673C>T	NP_000700.1:p.Arg225Trp
NM_001164783.1:c.673C>T	NP_001158255.1:p.Arg225Trp
NM_000709.4:c.673C>T MANE Select	NP_000700.1:p.Arg225Trp
NM_001164783.2:c.673C>T	NP_001158255.1:p.Arg225Trp