Canonical Allele Identifier: CA406012671

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 834598
• ClinVar RCV Id: RCV001035319
• dbSNP Id: rs2039372961
• MyVariant Identifiers: chr19:g.41928075G>C (hg19) ; chr19:g.41422170G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422170G>C , CM000681.2:g.41422170G>C	GRCh38
NC_000019.9:g.41928075G>C , CM000681.1:g.41928075G>C	GRCh37
NC_000019.8:g.46619915G>C	NCBI36
NG_013004.1:g.29382G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.653G>C MANE Select	ENSP00000269980.2:p.Gly218Ala
ENST00000269980.6:c.653G>C	ENSP00000269980.2:p.Gly218Ala
ENST00000457836.6:c.587G>C	ENSP00000416000.2:p.Gly196Ala
ENST00000535632.5:n.282G>C
ENST00000538423.5:n.779G>C
ENST00000540732.3:c.755G>C	ENSP00000443246.1:p.Gly252Ala
ENST00000541315.1:c.553G>C
ENST00000542943.5:c.566G>C	ENSP00000440345.1:p.Gly189Ala
ENST00000545787.1:n.281G>C
ENST00000595085.5:c.653G>C	ENSP00000471150.2:p.Gly218Ala
NM_000709.3:c.653G>C	NP_000700.1:p.Gly218Ala
NM_001164783.1:c.653G>C	NP_001158255.1:p.Gly218Ala
NM_000709.4:c.653G>C MANE Select	NP_000700.1:p.Gly218Ala
NM_001164783.2:c.653G>C	NP_001158255.1:p.Gly218Ala