Canonical Allele Identifier: CA221230

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93381
• ClinVar RCV Id: RCV000179777 ; RCV001854399
• dbSNP Id: rs398123513
• gnomAD v4: 19-41422739-C-T
• MyVariant Identifiers: chr19:g.41928644C>T (hg19) ; chr19:g.41422739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422739C>T , CM000681.2:g.41422739C>T	GRCh38
NC_000019.9:g.41928644C>T , CM000681.1:g.41928644C>T	GRCh37
NC_000019.8:g.46620484C>T	NCBI36
NG_013004.1:g.29951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.964C>T MANE Select	ENSP00000269980.2:p.Gln322Ter
ENST00000269980.6:c.964C>T	ENSP00000269980.2:p.Gln322Ter
ENST00000457836.6:c.898C>T	ENSP00000416000.2:p.Gln300Ter
ENST00000535632.5:n.593C>T
ENST00000540732.3:c.1066C>T	ENSP00000443246.1:p.Gln356Ter
ENST00000542943.5:c.877C>T	ENSP00000440345.1:p.Gln293Ter
ENST00000595085.5:c.922+42C>T	ENSP00000471150.2:n.922+42C>T
NM_000709.3:c.964C>T	NP_000700.1:p.Gln322Ter
NM_001164783.1:c.961C>T	NP_001158255.1:p.Gln321Ter
NM_000709.4:c.964C>T MANE Select	NP_000700.1:p.Gln322Ter
NM_001164783.2:c.961C>T	NP_001158255.1:p.Gln321Ter