Canonical Allele Identifier: CA406015294

Gene: BCKDHA

Linked Data

• dbSNP Id: rs753457028
• gnomAD v2: 19-41930377-C-G
• gnomAD v3: 19-41424472-C-G
• gnomAD v4: 19-41424472-C-G
• MyVariant Identifiers: chr19:g.41930377C>G (hg19) ; chr19:g.41424472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424472C>G , CM000681.2:g.41424472C>G	GRCh38
NC_000019.9:g.41930377C>G , CM000681.1:g.41930377C>G	GRCh37
NC_000019.8:g.46622217C>G	NCBI36
NG_013004.1:g.31684C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1202C>G MANE Select	ENSP00000269980.2:p.Pro401Arg
ENST00000269980.6:c.1202C>G	ENSP00000269980.2:p.Pro401Arg
ENST00000457836.6:c.1211C>G	ENSP00000416000.2:p.Pro404Arg
ENST00000540732.3:c.1304C>G	ENSP00000443246.1:p.Pro435Arg
ENST00000544905.1:c.62-30C>G
ENST00000595085.5:c.922+1775C>G	ENSP00000471150.2:n.922+1775C>G
NM_000709.3:c.1202C>G	NP_000700.1:p.Pro401Arg
NM_001164783.1:c.1199C>G	NP_001158255.1:p.Pro400Arg
NM_000709.4:c.1202C>G MANE Select	NP_000700.1:p.Pro401Arg
NM_001164783.2:c.1199C>G	NP_001158255.1:p.Pro400Arg