Canonical Allele Identifier: CA221187

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93348
• ClinVar RCV Id: RCV000180521
• dbSNP Id: rs398123493
• MyVariant Identifiers: chr19:g.41930489C>A (hg19) ; chr19:g.41424584C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424584C>A , CM000681.2:g.41424584C>A	GRCh38
NC_000019.9:g.41930489C>A , CM000681.1:g.41930489C>A	GRCh37
NC_000019.8:g.46622329C>A	NCBI36
NG_013004.1:g.31796C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1314C>A MANE Select	ENSP00000269980.2:p.Tyr438Ter
ENST00000269980.6:c.1314C>A	ENSP00000269980.2:p.Tyr438Ter
ENST00000457836.6:c.1323C>A	ENSP00000416000.2:p.Tyr441Ter
ENST00000540732.3:c.1416C>A	ENSP00000443246.1:p.Tyr472Ter
ENST00000544905.1:c.144C>A
ENST00000595085.5:c.922+1887C>A	ENSP00000471150.2:n.922+1887C>A
NM_000709.3:c.1314C>A	NP_000700.1:p.Tyr438Ter
NM_001164783.1:c.1311C>A	NP_001158255.1:p.Tyr437Ter
NM_000709.4:c.1314C>A MANE Select	NP_000700.1:p.Tyr438Ter
NM_001164783.2:c.1311C>A	NP_001158255.1:p.Tyr437Ter