Canonical Allele Identifier: CA406013450

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2195236
• ClinVar RCV Id: RCV002628518 ; RCV003274299
• dbSNP Id: rs1198414753
• gnomAD v2: 19-41928629-G-T
• gnomAD v3: 19-41422724-G-T
• gnomAD v4: 19-41422724-G-T
• MyVariant Identifiers: chr19:g.41928629G>T (hg19) ; chr19:g.41422724G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422724G>T , CM000681.2:g.41422724G>T	GRCh38
NC_000019.9:g.41928629G>T , CM000681.1:g.41928629G>T	GRCh37
NC_000019.8:g.46620469G>T	NCBI36
NG_013004.1:g.29936G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.949G>T MANE Select	ENSP00000269980.2:p.Ala317Ser
ENST00000269980.6:c.949G>T	ENSP00000269980.2:p.Ala317Ser
ENST00000457836.6:c.883G>T	ENSP00000416000.2:p.Ala295Ser
ENST00000535632.5:n.578G>T
ENST00000540732.3:c.1051G>T	ENSP00000443246.1:p.Ala351Ser
ENST00000542943.5:c.862G>T	ENSP00000440345.1:p.Ala288Ser
ENST00000545787.1:n.577G>T
ENST00000595085.5:c.922+27G>T	ENSP00000471150.2:n.922+27G>T
NM_000709.3:c.949G>T	NP_000700.1:p.Ala317Ser
NM_001164783.1:c.946G>T	NP_001158255.1:p.Ala316Ser
NM_000709.4:c.949G>T MANE Select	NP_000700.1:p.Ala317Ser
NM_001164783.2:c.946G>T	NP_001158255.1:p.Ala316Ser