Canonical Allele Identifier: CA406005490

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916855T>A (hg19) ; chr19:g.41410950T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410950T>A , CM000681.2:g.41410950T>A	GRCh38
NC_000019.9:g.41916855T>A , CM000681.1:g.41916855T>A	GRCh37
NC_000019.8:g.46608695T>A	NCBI36
NG_013004.1:g.18162T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.316T>A MANE Select	ENSP00000269980.2:p.Tyr106Asn
ENST00000269980.6:c.316T>A	ENSP00000269980.2:p.Tyr106Asn
ENST00000457836.6:c.250T>A	ENSP00000416000.2:p.Tyr84Asn
ENST00000538423.5:n.442T>A
ENST00000540732.3:c.418T>A	ENSP00000443246.1:p.Tyr140Asn
ENST00000541315.1:c.123T>A
ENST00000542943.5:c.288+134T>A	ENSP00000440345.1:n.288+134T>A
ENST00000595085.5:c.316T>A	ENSP00000471150.2:p.Tyr106Asn
NM_000709.3:c.316T>A	NP_000700.1:p.Tyr106Asn
NM_001164783.1:c.316T>A	NP_001158255.1:p.Tyr106Asn
NM_000709.4:c.316T>A MANE Select	NP_000700.1:p.Tyr106Asn
NM_001164783.2:c.316T>A	NP_001158255.1:p.Tyr106Asn