Canonical Allele Identifier: CA2585308200
Gene: BCKDHA HGNC NCBI

Linked Data

gnomAD v4: 19-41422950-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422950C>A , CM000681.2:g.41422950C>A GRCh38
NC_000019.9:g.41928855C>A , CM000681.1:g.41928855C>A GRCh37
NC_000019.8:g.46620695C>A NCBI36
NG_013004.1:g.30162C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.996-48C>A MANE Select ENSP00000269980.2:n.996-48C>A
ENST00000269980.6:c.996-48C>A ENSP00000269980.2:n.996-48C>A
ENST00000457836.6:c.957C>A ENSP00000416000.2:p.Pro319=
ENST00000540732.3:c.1098-48C>A ENSP00000443246.1:n.1098-48C>A
ENST00000542943.5:c.909-48C>A ENSP00000440345.1:n.909-48C>A
ENST00000595085.5:c.922+253C>A ENSP00000471150.2:n.922+253C>A
NM_000709.3:c.996-48C>A NP_000700.1:n.996-48C>A
NM_001164783.1:c.993-48C>A NP_001158255.1:n.993-48C>A
NM_000709.4:c.996-48C>A MANE Select NP_000700.1:n.996-48C>A
NM_001164783.2:c.993-48C>A NP_001158255.1:n.993-48C>A
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