Canonical Allele Identifier: CA9461030

Gene: BCKDHA

Linked Data

• dbSNP Id: rs746861446
• ExAC: 19:41916671 C / T
• gnomAD v2: 19-41916671-C-T
• gnomAD v4: 19-41410766-C-T
• MyVariant Identifiers: chr19:g.41916671C>T (hg19) ; chr19:g.41410766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410766C>T , CM000681.2:g.41410766C>T	GRCh38
NC_000019.9:g.41916671C>T , CM000681.1:g.41916671C>T	GRCh37
NC_000019.8:g.46608511C>T	NCBI36
NG_013004.1:g.17978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.238C>T MANE Select	ENSP00000269980.2:p.Arg80Cys
ENST00000269980.6:c.238C>T	ENSP00000269980.2:p.Arg80Cys
ENST00000457836.6:c.172C>T	ENSP00000416000.2:p.Arg58Cys
ENST00000538423.5:n.258C>T
ENST00000540732.3:c.340C>T	ENSP00000443246.1:p.Arg114Cys
ENST00000541315.1:c.45C>T
ENST00000542943.5:c.238C>T	ENSP00000440345.1:p.Arg80Cys
ENST00000595085.5:c.238C>T	ENSP00000471150.2:p.Arg80Cys
ENST00000604424.1:n.480C>T
NM_000709.3:c.238C>T	NP_000700.1:p.Arg80Cys
NM_001164783.1:c.238C>T	NP_001158255.1:p.Arg80Cys
NM_000709.4:c.238C>T MANE Select	NP_000700.1:p.Arg80Cys
NM_001164783.2:c.238C>T	NP_001158255.1:p.Arg80Cys