Canonical Allele Identifier: CA9461094

Gene: BCKDHA

Linked Data

• dbSNP Id: rs762665826
• ExAC: 19:41916889 G / T
• gnomAD v2: 19-41916889-G-T
• gnomAD v4: 19-41410984-G-T
• MyVariant Identifiers: chr19:g.41916889G>T (hg19) ; chr19:g.41410984G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410984G>T , CM000681.2:g.41410984G>T	GRCh38
NC_000019.9:g.41916889G>T , CM000681.1:g.41916889G>T	GRCh37
NC_000019.8:g.46608729G>T	NCBI36
NG_013004.1:g.18196G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.350G>T MANE Select	ENSP00000269980.2:p.Arg117Leu
ENST00000269980.6:c.350G>T	ENSP00000269980.2:p.Arg117Leu
ENST00000457836.6:c.284G>T	ENSP00000416000.2:p.Arg95Leu
ENST00000538423.5:n.476G>T
ENST00000540732.3:c.452G>T	ENSP00000443246.1:p.Arg151Leu
ENST00000541315.1:c.157G>T
ENST00000542943.5:c.288+168G>T	ENSP00000440345.1:n.288+168G>T
ENST00000595085.5:c.350G>T	ENSP00000471150.2:p.Arg117Leu
NM_000709.3:c.350G>T	NP_000700.1:p.Arg117Leu
NM_001164783.1:c.350G>T	NP_001158255.1:p.Arg117Leu
NM_000709.4:c.350G>T MANE Select	NP_000700.1:p.Arg117Leu
NM_001164783.2:c.350G>T	NP_001158255.1:p.Arg117Leu