Canonical Allele Identifier: CA406004719

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 984330
• ClinVar RCV Id: RCV001264340
• dbSNP Id: rs2039242789
• MyVariant Identifiers: chr19:g.41916629G>T (hg19) ; chr19:g.41410724G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410724G>T , CM000681.2:g.41410724G>T	GRCh38
NC_000019.9:g.41916629G>T , CM000681.1:g.41916629G>T	GRCh37
NC_000019.8:g.46608469G>T	NCBI36
NG_013004.1:g.17936G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.196G>T MANE Select	ENSP00000269980.2:p.Glu66Ter
ENST00000269980.6:c.196G>T	ENSP00000269980.2:p.Glu66Ter
ENST00000457836.6:c.130G>T	ENSP00000416000.2:p.Glu44Ter
ENST00000538423.5:n.216G>T
ENST00000540732.3:c.298G>T	ENSP00000443246.1:p.Glu100Ter
ENST00000541315.1:c.3G>T
ENST00000542943.5:c.196G>T	ENSP00000440345.1:p.Glu66Ter
ENST00000595085.5:c.196G>T	ENSP00000471150.2:p.Glu66Ter
ENST00000604424.1:n.438G>T
NM_000709.3:c.196G>T	NP_000700.1:p.Glu66Ter
NM_001164783.1:c.196G>T	NP_001158255.1:p.Glu66Ter
NM_000709.4:c.196G>T MANE Select	NP_000700.1:p.Glu66Ter
NM_001164783.2:c.196G>T	NP_001158255.1:p.Glu66Ter