Canonical Allele Identifier: CA406013831

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41423039-G-T
• MyVariant Identifiers: chr19:g.41928944G>T (hg19) ; chr19:g.41423039G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423039G>T , CM000681.2:g.41423039G>T	GRCh38
NC_000019.9:g.41928944G>T , CM000681.1:g.41928944G>T	GRCh37
NC_000019.8:g.46620784G>T	NCBI36
NG_013004.1:g.30251G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1037G>T MANE Select	ENSP00000269980.2:p.Arg346Leu
ENST00000269980.6:c.1037G>T	ENSP00000269980.2:p.Arg346Leu
ENST00000457836.6:c.1046G>T	ENSP00000416000.2:p.Arg349Leu
ENST00000540732.3:c.1139G>T	ENSP00000443246.1:p.Arg380Leu
ENST00000542943.5:c.950G>T	ENSP00000440345.1:p.Arg317Leu
ENST00000595085.5:c.922+342G>T	ENSP00000471150.2:n.922+342G>T
NM_000709.3:c.1037G>T	NP_000700.1:p.Arg346Leu
NM_001164783.1:c.1034G>T	NP_001158255.1:p.Arg345Leu
NM_000709.4:c.1037G>T MANE Select	NP_000700.1:p.Arg346Leu
NM_001164783.2:c.1034G>T	NP_001158255.1:p.Arg345Leu