Canonical Allele Identifier: CA2585308161
Gene: BCKDHA HGNC NCBI

Linked Data

gnomAD v4: 19-41422848-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422848T>C , CM000681.2:g.41422848T>C GRCh38
NC_000019.9:g.41928753T>C , CM000681.1:g.41928753T>C GRCh37
NC_000019.8:g.46620593T>C NCBI36
NG_013004.1:g.30060T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.995+78T>C MANE Select ENSP00000269980.2:n.995+78T>C
ENST00000269980.6:c.995+78T>C ENSP00000269980.2:n.995+78T>C
ENST00000457836.6:c.930-75T>C ENSP00000416000.2:n.930-75T>C
ENST00000540732.3:c.1097+78T>C ENSP00000443246.1:n.1097+78T>C
ENST00000542943.5:c.908+78T>C ENSP00000440345.1:n.908+78T>C
ENST00000595085.5:c.922+151T>C ENSP00000471150.2:n.922+151T>C
NM_000709.3:c.995+78T>C NP_000700.1:n.995+78T>C
NM_001164783.1:c.992+78T>C NP_001158255.1:n.992+78T>C
NM_000709.4:c.995+78T>C MANE Select NP_000700.1:n.995+78T>C
NM_001164783.2:c.992+78T>C NP_001158255.1:n.992+78T>C
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