Canonical Allele Identifier: CA9461287

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1653498
• ClinVar RCV Id: RCV002174040
• dbSNP Id: rs372967761
• ExAC: 19:41928520 C / G
• gnomAD v2: 19-41928520-C-G
• gnomAD v3: 19-41422615-C-G
• gnomAD v4: 19-41422615-C-G
• MyVariant Identifiers: chr19:g.41928520C>G (hg19) ; chr19:g.41422615C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422615C>G , CM000681.2:g.41422615C>G	GRCh38
NC_000019.9:g.41928520C>G , CM000681.1:g.41928520C>G	GRCh37
NC_000019.8:g.46620360C>G	NCBI36
NG_013004.1:g.29827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.854-14C>G MANE Select	ENSP00000269980.2:n.854-14C>G
ENST00000269980.6:c.854-14C>G	ENSP00000269980.2:n.854-14C>G
ENST00000457836.6:c.788-14C>G	ENSP00000416000.2:n.788-14C>G
ENST00000535632.5:n.483-14C>G
ENST00000540732.3:c.956-14C>G	ENSP00000443246.1:n.956-14C>G
ENST00000542943.5:c.767-14C>G	ENSP00000440345.1:n.767-14C>G
ENST00000545787.1:n.482-14C>G
ENST00000595085.5:c.854-14C>G	ENSP00000471150.2:n.854-14C>G
NM_000709.3:c.854-14C>G	NP_000700.1:n.854-14C>G
NM_001164783.1:c.854-17C>G	NP_001158255.1:n.854-17C>G
NM_000709.4:c.854-14C>G MANE Select	NP_000700.1:n.854-14C>G
NM_001164783.2:c.854-17C>G	NP_001158255.1:n.854-17C>G