Canonical Allele Identifier: CA2585308159
Gene: BCKDHA HGNC NCBI

Linked Data

gnomAD v4: 19-41422845-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422845G>A , CM000681.2:g.41422845G>A GRCh38
NC_000019.9:g.41928750G>A , CM000681.1:g.41928750G>A GRCh37
NC_000019.8:g.46620590G>A NCBI36
NG_013004.1:g.30057G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.995+75G>A MANE Select ENSP00000269980.2:n.995+75G>A
ENST00000269980.6:c.995+75G>A ENSP00000269980.2:n.995+75G>A
ENST00000457836.6:c.929+75G>A ENSP00000416000.2:n.929+75G>A
ENST00000540732.3:c.1097+75G>A ENSP00000443246.1:n.1097+75G>A
ENST00000542943.5:c.908+75G>A ENSP00000440345.1:n.908+75G>A
ENST00000595085.5:c.922+148G>A ENSP00000471150.2:n.922+148G>A
NM_000709.3:c.995+75G>A NP_000700.1:n.995+75G>A
NM_001164783.1:c.992+75G>A NP_001158255.1:n.992+75G>A
NM_000709.4:c.995+75G>A MANE Select NP_000700.1:n.995+75G>A
NM_001164783.2:c.992+75G>A NP_001158255.1:n.992+75G>A
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