Canonical Allele Identifier: CA507690794

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1158633
• ClinVar RCV Id: RCV001502099
• dbSNP Id: rs1469254740
• gnomAD v3: 19-41423040-C-T
• gnomAD v4: 19-41423040-C-T
• MyVariant Identifiers: chr19:g.41928945C>T (hg19) ; chr19:g.41423040C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423040C>T , CM000681.2:g.41423040C>T	GRCh38
NC_000019.9:g.41928945C>T , CM000681.1:g.41928945C>T	GRCh37
NC_000019.8:g.46620785C>T	NCBI36
NG_013004.1:g.30252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1038C>T MANE Select	ENSP00000269980.2:p.Arg346=
ENST00000269980.6:c.1038C>T	ENSP00000269980.2:p.Arg346=
ENST00000457836.6:c.1047C>T	ENSP00000416000.2:p.Arg349=
ENST00000540732.3:c.1140C>T	ENSP00000443246.1:p.Arg380=
ENST00000542943.5:c.951C>T	ENSP00000440345.1:p.Arg317=
ENST00000595085.5:c.922+343C>T	ENSP00000471150.2:n.922+343C>T
NM_000709.3:c.1038C>T	NP_000700.1:p.Arg346=
NM_001164783.1:c.1035C>T	NP_001158255.1:p.Arg345=
NM_000709.4:c.1038C>T MANE Select	NP_000700.1:p.Arg346=
NM_001164783.2:c.1035C>T	NP_001158255.1:p.Arg345=