Canonical Allele Identifier: CA406015132
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 431986
dbSNP Id: rs1555767285

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424436A>G , CM000681.2:g.41424436A>G GRCh38
NC_000019.9:g.41930341A>G , CM000681.1:g.41930341A>G GRCh37
NC_000019.8:g.46622181A>G NCBI36
NG_013004.1:g.31648A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1168-2A>G MANE Select ENSP00000269980.2:n.1168-2A>G
ENST00000269980.6:c.1168-2A>G ENSP00000269980.2:n.1168-2A>G
ENST00000457836.6:c.1177-2A>G ENSP00000416000.2:n.1177-2A>G
ENST00000540732.3:c.1270-2A>G ENSP00000443246.1:n.1270-2A>G
ENST00000544905.1:c.62-66A>G
ENST00000595085.5:c.922+1739A>G ENSP00000471150.2:n.922+1739A>G
NM_000709.3:c.1168-2A>G NP_000700.1:n.1168-2A>G
NM_001164783.1:c.1165-2A>G NP_001158255.1:n.1165-2A>G
NM_000709.4:c.1168-2A>G MANE Select NP_000700.1:n.1168-2A>G
NM_001164783.2:c.1165-2A>G NP_001158255.1:n.1165-2A>G