Canonical Allele Identifier: CA115507

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 100009
• ClinVar RCV Id: RCV000002473 ; RCV000079229 ; RCV000055825 ; RCV002514533
• dbSNP Id: rs137852870
• ExAC: 19:41930487 T / A
• gnomAD v2: 19-41930487-T-A
• gnomAD v3: 19-41424582-T-A
• gnomAD v4: 19-41424582-T-A
• MyVariant Identifiers: chr19:g.41930487T>A (hg19) ; chr19:g.41424582T>A (hg38)
• PubMed: PMID:1356170 ; PMID:1682165 ; PMID:1867199 ; PMID:1885764 ; PMID:1943689 ; PMID:2241958 ; PMID:2703538 ; PMID:8037208 ; PMID:9582350 ; PMID:12888983 ; PMID:14517957 ; PMID:14567968 ; PMID:20301495

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424582T>A , CM000681.2:g.41424582T>A	GRCh38
NC_000019.9:g.41930487T>A , CM000681.1:g.41930487T>A	GRCh37
NC_000019.8:g.46622327T>A	NCBI36
NG_013004.1:g.31794T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1312T>A MANE Select	ENSP00000269980.2:p.Tyr438Asn
ENST00000269980.6:c.1312T>A	ENSP00000269980.2:p.Tyr438Asn
ENST00000457836.6:c.1321T>A	ENSP00000416000.2:p.Tyr441Asn
ENST00000540732.3:c.1414T>A	ENSP00000443246.1:p.Tyr472Asn
ENST00000544905.1:c.142T>A
ENST00000595085.5:c.922+1885T>A	ENSP00000471150.2:n.922+1885T>A
NM_000709.3:c.1312T>A	NP_000700.1:p.Tyr438Asn
NM_001164783.1:c.1309T>A	NP_001158255.1:p.Tyr437Asn
NM_000709.4:c.1312T>A MANE Select	NP_000700.1:p.Tyr438Asn
NM_001164783.2:c.1309T>A	NP_001158255.1:p.Tyr437Asn