Canonical Allele Identifier: CA308515893
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1293822
ClinVar RCV Id: RCV001715802
dbSNP Id: rs73931479

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41411083A>G , CM000681.2:g.41411083A>G GRCh38
NC_000019.9:g.41916988A>G , CM000681.1:g.41916988A>G GRCh37
NC_000019.8:g.46608828A>G NCBI36
NG_013004.1:g.18295A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.375+74A>G MANE Select ENSP00000269980.2:n.375+74A>G
ENST00000269980.6:c.375+74A>G ENSP00000269980.2:n.375+74A>G
ENST00000457836.6:c.309+74A>G ENSP00000416000.2:n.309+74A>G
ENST00000538423.5:n.501+74A>G
ENST00000540732.3:c.477+74A>G ENSP00000443246.1:n.477+74A>G
ENST00000541315.1:c.182+74A>G
ENST00000542943.5:c.288+267A>G ENSP00000440345.1:n.288+267A>G
ENST00000595085.5:c.375+74A>G ENSP00000471150.2:n.375+74A>G
NM_000709.3:c.375+74A>G NP_000700.1:n.375+74A>G
NM_001164783.1:c.375+74A>G NP_001158255.1:n.375+74A>G
NM_000709.4:c.375+74A>G MANE Select NP_000700.1:n.375+74A>G
NM_001164783.2:c.375+74A>G NP_001158255.1:n.375+74A>G