Canonical Allele Identifier: CA406013772

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1515342
• ClinVar RCV Id: RCV002021020
• dbSNP Id: rs1417360930
• gnomAD v4: 19-41423013-C-G
• MyVariant Identifiers: chr19:g.41928918C>G (hg19) ; chr19:g.41423013C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423013C>G , CM000681.2:g.41423013C>G	GRCh38
NC_000019.9:g.41928918C>G , CM000681.1:g.41928918C>G	GRCh37
NC_000019.8:g.46620758C>G	NCBI36
NG_013004.1:g.30225C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1011C>G MANE Select	ENSP00000269980.2:p.Ser337Arg
ENST00000269980.6:c.1011C>G	ENSP00000269980.2:p.Ser337Arg
ENST00000457836.6:c.1020C>G	ENSP00000416000.2:p.Ser340Arg
ENST00000540732.3:c.1113C>G	ENSP00000443246.1:p.Ser371Arg
ENST00000542943.5:c.924C>G	ENSP00000440345.1:p.Ser308Arg
ENST00000595085.5:c.922+316C>G	ENSP00000471150.2:n.922+316C>G
NM_000709.3:c.1011C>G	NP_000700.1:p.Ser337Arg
NM_001164783.1:c.1008C>G	NP_001158255.1:p.Ser336Arg
NM_000709.4:c.1011C>G MANE Select	NP_000700.1:p.Ser337Arg
NM_001164783.2:c.1008C>G	NP_001158255.1:p.Ser336Arg