Canonical Allele Identifier: CA1640908566
Gene: BCKDHB HGNC NCBI

Linked Data

dbSNP Id: rs1769060127
gnomAD v4: 6-80106633-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106633T>C , CM000668.2:g.80106633T>C GRCh38
NC_000006.11:g.80816350T>C , CM000668.1:g.80816350T>C GRCh37
NC_000006.10:g.80873069T>C NCBI36
NG_009775.1:g.5007T>C
NG_009775.2:g.5007T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000056.3:c.-61T>C NP_000047.1:n.-61T>C
NM_183050.2:c.-61T>C NP_898871.1:n.-61T>C
NM_000056.4:c.-61T>C NP_000047.1:n.-61T>C
NM_001318975.1:c.-65T>C NP_001305904.1:n.-65T>C
NM_183050.3:c.-61T>C NP_898871.1:n.-61T>C
NR_134945.1:n.24T>C
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