Canonical Allele Identifier: CA406012864

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1599960627
• gnomAD v3: 19-41422265-T-C
• gnomAD v4: 19-41422265-T-C
• MyVariant Identifiers: chr19:g.41928170T>C (hg19) ; chr19:g.41422265T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422265T>C , CM000681.2:g.41422265T>C	GRCh38
NC_000019.9:g.41928170T>C , CM000681.1:g.41928170T>C	GRCh37
NC_000019.8:g.46620010T>C	NCBI36
NG_013004.1:g.29477T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.748T>C MANE Select	ENSP00000269980.2:p.Phe250Leu
ENST00000269980.6:c.748T>C	ENSP00000269980.2:p.Phe250Leu
ENST00000457836.6:c.682T>C	ENSP00000416000.2:p.Phe228Leu
ENST00000535632.5:n.377T>C
ENST00000540732.3:c.850T>C	ENSP00000443246.1:p.Phe284Leu
ENST00000542943.5:c.661T>C	ENSP00000440345.1:p.Phe221Leu
ENST00000545787.1:n.376T>C
ENST00000595085.5:c.748T>C	ENSP00000471150.2:p.Phe250Leu
NM_000709.3:c.748T>C	NP_000700.1:p.Phe250Leu
NM_001164783.1:c.748T>C	NP_001158255.1:p.Phe250Leu
NM_000709.4:c.748T>C MANE Select	NP_000700.1:p.Phe250Leu
NM_001164783.2:c.748T>C	NP_001158255.1:p.Phe250Leu