Canonical Allele Identifier: CA406015589

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1329036271
• gnomAD v2: 19-41930465-C-G
• gnomAD v4: 19-41424560-C-G
• MyVariant Identifiers: chr19:g.41930465C>G (hg19) ; chr19:g.41424560C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424560C>G , CM000681.2:g.41424560C>G	GRCh38
NC_000019.9:g.41930465C>G , CM000681.1:g.41930465C>G	GRCh37
NC_000019.8:g.46622305C>G	NCBI36
NG_013004.1:g.31772C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1290C>G MANE Select	ENSP00000269980.2:p.His430Gln
ENST00000269980.6:c.1290C>G	ENSP00000269980.2:p.His430Gln
ENST00000457836.6:c.1299C>G	ENSP00000416000.2:p.His433Gln
ENST00000540732.3:c.1392C>G	ENSP00000443246.1:p.His464Gln
ENST00000544905.1:c.120C>G
ENST00000595085.5:c.922+1863C>G	ENSP00000471150.2:n.922+1863C>G
NM_000709.3:c.1290C>G	NP_000700.1:p.His430Gln
NM_001164783.1:c.1287C>G	NP_001158255.1:p.His429Gln
NM_000709.4:c.1290C>G MANE Select	NP_000700.1:p.His430Gln
NM_001164783.2:c.1287C>G	NP_001158255.1:p.His429Gln