Canonical Allele Identifier: CA507560684

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1535070
• ClinVar RCV Id: RCV002077071
• dbSNP Id: rs2122150817
• MyVariant Identifiers: chr19:g.41930411G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424506G>C , CM000681.2:g.41424506G>C	GRCh38
NC_000019.9:g.41930411G>C , CM000681.1:g.41930411G>C	GRCh37
NC_000019.8:g.46622251G>C	NCBI36
NG_013004.1:g.31718G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1236G>C MANE Select	ENSP00000269980.2:p.Val412=
ENST00000269980.6:c.1236G>C	ENSP00000269980.2:p.Val412=
ENST00000457836.6:c.1245G>C	ENSP00000416000.2:p.Val415=
ENST00000540732.3:c.1338G>C	ENSP00000443246.1:p.Val446=
ENST00000544905.1:c.66G>C
ENST00000595085.5:c.922+1809G>C	ENSP00000471150.2:n.922+1809G>C
NM_000709.3:c.1236G>C	NP_000700.1:p.Val412=
NM_001164783.1:c.1233G>C	NP_001158255.1:p.Val411=
NM_000709.4:c.1236G>C MANE Select	NP_000700.1:p.Val412=
NM_001164783.2:c.1233G>C	NP_001158255.1:p.Val411=