Canonical Allele Identifier: CA406012683

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422178-T-A
• MyVariant Identifiers: chr19:g.41928083T>A (hg19) ; chr19:g.41422178T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422178T>A , CM000681.2:g.41422178T>A	GRCh38
NC_000019.9:g.41928083T>A , CM000681.1:g.41928083T>A	GRCh37
NC_000019.8:g.46619923T>A	NCBI36
NG_013004.1:g.29390T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.661T>A MANE Select	ENSP00000269980.2:p.Tyr221Asn
ENST00000269980.6:c.661T>A	ENSP00000269980.2:p.Tyr221Asn
ENST00000457836.6:c.595T>A	ENSP00000416000.2:p.Tyr199Asn
ENST00000535632.5:n.290T>A
ENST00000538423.5:n.787T>A
ENST00000540732.3:c.763T>A	ENSP00000443246.1:p.Tyr255Asn
ENST00000541315.1:c.561T>A
ENST00000542943.5:c.574T>A	ENSP00000440345.1:p.Tyr192Asn
ENST00000545787.1:n.289T>A
ENST00000595085.5:c.661T>A	ENSP00000471150.2:p.Tyr221Asn
NM_000709.3:c.661T>A	NP_000700.1:p.Tyr221Asn
NM_001164783.1:c.661T>A	NP_001158255.1:p.Tyr221Asn
NM_000709.4:c.661T>A MANE Select	NP_000700.1:p.Tyr221Asn
NM_001164783.2:c.661T>A	NP_001158255.1:p.Tyr221Asn