Canonical Allele Identifier: CA406015480

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039406770
• gnomAD v4: 19-41424534-A-G
• MyVariant Identifiers: chr19:g.41930439A>G (hg19) ; chr19:g.41424534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424534A>G , CM000681.2:g.41424534A>G	GRCh38
NC_000019.9:g.41930439A>G , CM000681.1:g.41930439A>G	GRCh37
NC_000019.8:g.46622279A>G	NCBI36
NG_013004.1:g.31746A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1264A>G MANE Select	ENSP00000269980.2:p.Lys422Glu
ENST00000269980.6:c.1264A>G	ENSP00000269980.2:p.Lys422Glu
ENST00000457836.6:c.1273A>G	ENSP00000416000.2:p.Lys425Glu
ENST00000540732.3:c.1366A>G	ENSP00000443246.1:p.Lys456Glu
ENST00000544905.1:c.94A>G
ENST00000595085.5:c.922+1837A>G	ENSP00000471150.2:n.922+1837A>G
NM_000709.3:c.1264A>G	NP_000700.1:p.Lys422Glu
NM_001164783.1:c.1261A>G	NP_001158255.1:p.Lys421Glu
NM_000709.4:c.1264A>G MANE Select	NP_000700.1:p.Lys422Glu
NM_001164783.2:c.1261A>G	NP_001158255.1:p.Lys421Glu