Canonical Allele Identifier: CA9461413

Gene: BCKDHA

Linked Data

• dbSNP Id: rs770222494
• ExAC: 19:41930421 A / G
• gnomAD v2: 19-41930421-A-G
• gnomAD v4: 19-41424516-A-G
• MyVariant Identifiers: chr19:g.41930421A>G (hg19) ; chr19:g.41424516A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424516A>G , CM000681.2:g.41424516A>G	GRCh38
NC_000019.9:g.41930421A>G , CM000681.1:g.41930421A>G	GRCh37
NC_000019.8:g.46622261A>G	NCBI36
NG_013004.1:g.31728A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1246A>G MANE Select	ENSP00000269980.2:p.Met416Val
ENST00000269980.6:c.1246A>G	ENSP00000269980.2:p.Met416Val
ENST00000457836.6:c.1255A>G	ENSP00000416000.2:p.Met419Val
ENST00000540732.3:c.1348A>G	ENSP00000443246.1:p.Met450Val
ENST00000544905.1:c.76A>G
ENST00000595085.5:c.922+1819A>G	ENSP00000471150.2:n.922+1819A>G
NM_000709.3:c.1246A>G	NP_000700.1:p.Met416Val
NM_001164783.1:c.1243A>G	NP_001158255.1:p.Met415Val
NM_000709.4:c.1246A>G MANE Select	NP_000700.1:p.Met416Val
NM_001164783.2:c.1243A>G	NP_001158255.1:p.Met415Val