Canonical Allele Identifier: CA633470496

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1169175896
• gnomAD v2: 19-41930519-G-A
• gnomAD v4: 19-41424614-G-A
• MyVariant Identifiers: chr19:g.41930519G>A (hg19) ; chr19:g.41424614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424614G>A , CM000681.2:g.41424614G>A	GRCh38
NC_000019.9:g.41930519G>A , CM000681.1:g.41930519G>A	GRCh37
NC_000019.8:g.46622359G>A	NCBI36
NG_013004.1:g.31826G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.*6G>A MANE Select	ENSP00000269980.2:n.*6G>A
ENST00000269980.6:c.*6G>A	ENSP00000269980.2:n.*6G>A
ENST00000457836.6:c.*6G>A	ENSP00000416000.2:n.*6G>A
ENST00000540732.3:c.*6G>A	ENSP00000443246.1:n.*6G>A
ENST00000544905.1:c.174G>A
ENST00000595085.5:c.922+1917G>A	ENSP00000471150.2:n.922+1917G>A
NM_000709.3:c.*6G>A	NP_000700.1:n.*6G>A
NM_001164783.1:c.*6G>A	NP_001158255.1:n.*6G>A
NM_000709.4:c.*6G>A MANE Select	NP_000700.1:n.*6G>A
NM_001164783.2:c.*6G>A	NP_001158255.1:n.*6G>A