Canonical Allele Identifier: CA507690571

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1438644080
• gnomAD v3: 19-41422285-T-C
• gnomAD v4: 19-41422285-T-C
• MyVariant Identifiers: chr19:g.41928190T>C (hg19) ; chr19:g.41422285T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422285T>C , CM000681.2:g.41422285T>C	GRCh38
NC_000019.9:g.41928190T>C , CM000681.1:g.41928190T>C	GRCh37
NC_000019.8:g.46620030T>C	NCBI36
NG_013004.1:g.29497T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.768T>C MANE Select	ENSP00000269980.2:p.Leu256=
ENST00000269980.6:c.768T>C	ENSP00000269980.2:p.Leu256=
ENST00000457836.6:c.702T>C	ENSP00000416000.2:p.Leu234=
ENST00000535632.5:n.397T>C
ENST00000540732.3:c.870T>C	ENSP00000443246.1:p.Leu290=
ENST00000542943.5:c.681T>C	ENSP00000440345.1:p.Leu227=
ENST00000545787.1:n.396T>C
ENST00000595085.5:c.768T>C	ENSP00000471150.2:p.Leu256=
NM_000709.3:c.768T>C	NP_000700.1:p.Leu256=
NM_001164783.1:c.768T>C	NP_001158255.1:p.Leu256=
NM_000709.4:c.768T>C MANE Select	NP_000700.1:p.Leu256=
NM_001164783.2:c.768T>C	NP_001158255.1:p.Leu256=