Canonical Allele Identifier: CA406013743

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1444606015
• gnomAD v2: 19-41928907-G-A
• gnomAD v4: 19-41423002-G-A
• MyVariant Identifiers: chr19:g.41928907G>A (hg19) ; chr19:g.41423002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423002G>A , CM000681.2:g.41423002G>A	GRCh38
NC_000019.9:g.41928907G>A , CM000681.1:g.41928907G>A	GRCh37
NC_000019.8:g.46620747G>A	NCBI36
NG_013004.1:g.30214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1000G>A MANE Select	ENSP00000269980.2:p.Gly334Arg
ENST00000269980.6:c.1000G>A	ENSP00000269980.2:p.Gly334Arg
ENST00000457836.6:c.1009G>A	ENSP00000416000.2:p.Gly337Arg
ENST00000540732.3:c.1102G>A	ENSP00000443246.1:p.Gly368Arg
ENST00000542943.5:c.913G>A	ENSP00000440345.1:p.Gly305Arg
ENST00000595085.5:c.922+305G>A	ENSP00000471150.2:n.922+305G>A
NM_000709.3:c.1000G>A	NP_000700.1:p.Gly334Arg
NM_001164783.1:c.997G>A	NP_001158255.1:p.Gly333Arg
NM_000709.4:c.1000G>A MANE Select	NP_000700.1:p.Gly334Arg
NM_001164783.2:c.997G>A	NP_001158255.1:p.Gly333Arg