Canonical Allele Identifier: CA406015645

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1298823471
• gnomAD v3: 19-41424576-G-A
• gnomAD v4: 19-41424576-G-A
• COSMIC: COSM4390407
• MyVariant Identifiers: chr19:g.41930481G>A (hg19) ; chr19:g.41424576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424576G>A , CM000681.2:g.41424576G>A	GRCh38
NC_000019.9:g.41930481G>A , CM000681.1:g.41930481G>A	GRCh37
NC_000019.8:g.46622321G>A	NCBI36
NG_013004.1:g.31788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1306G>A MANE Select	ENSP00000269980.2:p.Glu436Lys
ENST00000269980.6:c.1306G>A	ENSP00000269980.2:p.Glu436Lys
ENST00000457836.6:c.1315G>A	ENSP00000416000.2:p.Glu439Lys
ENST00000540732.3:c.1408G>A	ENSP00000443246.1:p.Glu470Lys
ENST00000544905.1:c.136G>A
ENST00000595085.5:c.922+1879G>A	ENSP00000471150.2:n.922+1879G>A
NM_000709.3:c.1306G>A	NP_000700.1:p.Glu436Lys
NM_001164783.1:c.1303G>A	NP_001158255.1:p.Glu435Lys
NM_000709.4:c.1306G>A MANE Select	NP_000700.1:p.Glu436Lys
NM_001164783.2:c.1303G>A	NP_001158255.1:p.Glu435Lys