Canonical Allele Identifier: CA406013272

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422649-G-C
• MyVariant Identifiers: chr19:g.41928554G>C (hg19) ; chr19:g.41422649G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422649G>C , CM000681.2:g.41422649G>C	GRCh38
NC_000019.9:g.41928554G>C , CM000681.1:g.41928554G>C	GRCh37
NC_000019.8:g.46620394G>C	NCBI36
NG_013004.1:g.29861G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.874G>C MANE Select	ENSP00000269980.2:p.Gly292Arg
ENST00000269980.6:c.874G>C	ENSP00000269980.2:p.Gly292Arg
ENST00000457836.6:c.808G>C	ENSP00000416000.2:p.Gly270Arg
ENST00000535632.5:n.503G>C
ENST00000540732.3:c.976G>C	ENSP00000443246.1:p.Gly326Arg
ENST00000542943.5:c.787G>C	ENSP00000440345.1:p.Gly263Arg
ENST00000545787.1:n.502G>C
ENST00000595085.5:c.874G>C	ENSP00000471150.2:p.Gly292Arg
NM_000709.3:c.874G>C	NP_000700.1:p.Gly292Arg
NM_001164783.1:c.871G>C	NP_001158255.1:p.Gly291Arg
NM_000709.4:c.874G>C MANE Select	NP_000700.1:p.Gly292Arg
NM_001164783.2:c.871G>C	NP_001158255.1:p.Gly291Arg