Canonical Allele Identifier: CA2578677397
Gene: BCKDHB HGNC NCBI

Linked Data

gnomAD v4: 6-80106621-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106621C>T , CM000668.2:g.80106621C>T GRCh38
NC_000006.11:g.80816338C>T , CM000668.1:g.80816338C>T GRCh37
NC_000006.10:g.80873057C>T NCBI36
NG_009775.1:g.4995C>T
NG_009775.2:g.4995C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000056.4:c.-73C>T NP_000047.1:n.-73C>T
NM_001318975.1:c.-77C>T NP_001305904.1:n.-77C>T
NM_183050.3:c.-73C>T NP_898871.1:n.-73C>T
NR_134945.1:n.12C>T
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