Canonical Allele Identifier: CA406013540

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422766-T-A
• MyVariant Identifiers: chr19:g.41928671T>A (hg19) ; chr19:g.41422766T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422766T>A , CM000681.2:g.41422766T>A	GRCh38
NC_000019.9:g.41928671T>A , CM000681.1:g.41928671T>A	GRCh37
NC_000019.8:g.46620511T>A	NCBI36
NG_013004.1:g.29978T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.991T>A MANE Select	ENSP00000269980.2:p.Tyr331Asn
ENST00000269980.6:c.991T>A	ENSP00000269980.2:p.Tyr331Asn
ENST00000457836.6:c.925T>A	ENSP00000416000.2:p.Tyr309Asn
ENST00000540732.3:c.1093T>A	ENSP00000443246.1:p.Tyr365Asn
ENST00000542943.5:c.904T>A	ENSP00000440345.1:p.Tyr302Asn
ENST00000595085.5:c.922+69T>A	ENSP00000471150.2:n.922+69T>A
NM_000709.3:c.991T>A	NP_000700.1:p.Tyr331Asn
NM_001164783.1:c.988T>A	NP_001158255.1:p.Tyr330Asn
NM_000709.4:c.991T>A MANE Select	NP_000700.1:p.Tyr331Asn
NM_001164783.2:c.988T>A	NP_001158255.1:p.Tyr330Asn