Canonical Allele Identifier: CA9461238

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 894372
• ClinVar RCV Id: RCV001134884 ; RCV001833716
• dbSNP Id: rs141086188
• ExAC: 19:41928086 G / A
• gnomAD v2: 19-41928086-G-A
• gnomAD v3: 19-41422181-G-A
• gnomAD v4: 19-41422181-G-A
• MyVariant Identifiers: chr19:g.41928086G>A (hg19) ; chr19:g.41422181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422181G>A , CM000681.2:g.41422181G>A	GRCh38
NC_000019.9:g.41928086G>A , CM000681.1:g.41928086G>A	GRCh37
NC_000019.8:g.46619926G>A	NCBI36
NG_013004.1:g.29393G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.664G>A MANE Select	ENSP00000269980.2:p.Ala222Thr
ENST00000269980.6:c.664G>A	ENSP00000269980.2:p.Ala222Thr
ENST00000457836.6:c.598G>A	ENSP00000416000.2:p.Ala200Thr
ENST00000535632.5:n.293G>A
ENST00000538423.5:n.790G>A
ENST00000540732.3:c.766G>A	ENSP00000443246.1:p.Ala256Thr
ENST00000541315.1:c.564G>A
ENST00000542943.5:c.577G>A	ENSP00000440345.1:p.Ala193Thr
ENST00000545787.1:n.292G>A
ENST00000595085.5:c.664G>A	ENSP00000471150.2:p.Ala222Thr
NM_000709.3:c.664G>A	NP_000700.1:p.Ala222Thr
NM_001164783.1:c.664G>A	NP_001158255.1:p.Ala222Thr
NM_000709.4:c.664G>A MANE Select	NP_000700.1:p.Ala222Thr
NM_001164783.2:c.664G>A	NP_001158255.1:p.Ala222Thr