Canonical Allele Identifier: CA828530081
Gene: BCKDHB HGNC NCBI

Linked Data

dbSNP Id: rs1245485893
gnomAD v4: 6-80106639-C-T
MyVariant Identifiers: chr6:g.80816356C>T (hg19) chr6:g.80106639C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106639C>T , CM000668.2:g.80106639C>T GRCh38
NC_000006.11:g.80816356C>T , CM000668.1:g.80816356C>T GRCh37
NC_000006.10:g.80873075C>T NCBI36
NG_009775.1:g.5013C>T
NG_009775.2:g.5013C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000056.3:c.-55C>T NP_000047.1:n.-55C>T
NM_183050.2:c.-55C>T NP_898871.1:n.-55C>T
NM_000056.4:c.-55C>T NP_000047.1:n.-55C>T
NM_001318975.1:c.-59C>T NP_001305904.1:n.-59C>T
NM_183050.3:c.-55C>T NP_898871.1:n.-55C>T
NR_134945.1:n.30C>T
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