Canonical Allele Identifier: CA9461283

Gene: BCKDHA

Linked Data

• dbSNP Id: rs200793975
• ExAC: 19:41928504 G / A
• gnomAD v2: 19-41928504-G-A
• gnomAD v3: 19-41422599-G-A
• gnomAD v4: 19-41422599-G-A
• MyVariant Identifiers: chr19:g.41928504G>A (hg19) ; chr19:g.41422599G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422599G>A , CM000681.2:g.41422599G>A	GRCh38
NC_000019.9:g.41928504G>A , CM000681.1:g.41928504G>A	GRCh37
NC_000019.8:g.46620344G>A	NCBI36
NG_013004.1:g.29811G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.854-30G>A MANE Select	ENSP00000269980.2:n.854-30G>A
ENST00000269980.6:c.854-30G>A	ENSP00000269980.2:n.854-30G>A
ENST00000457836.6:c.788-30G>A	ENSP00000416000.2:n.788-30G>A
ENST00000535632.5:n.483-30G>A
ENST00000540732.3:c.956-30G>A	ENSP00000443246.1:n.956-30G>A
ENST00000542943.5:c.767-30G>A	ENSP00000440345.1:n.767-30G>A
ENST00000545787.1:n.482-30G>A
ENST00000595085.5:c.854-30G>A	ENSP00000471150.2:n.854-30G>A
NM_000709.3:c.854-30G>A	NP_000700.1:n.854-30G>A
NM_001164783.1:c.854-33G>A	NP_001158255.1:n.854-33G>A
NM_000709.4:c.854-30G>A MANE Select	NP_000700.1:n.854-30G>A
NM_001164783.2:c.854-33G>A	NP_001158255.1:n.854-33G>A