Canonical Allele Identifier: CA142276808
Gene: BCKDHB HGNC NCBI

Linked Data

dbSNP Id: rs935014031
gnomAD v4: 6-80106643-C-G
MyVariant Identifiers: chr6:g.80106643C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106643C>G , CM000668.2:g.80106643C>G GRCh38
NC_000006.11:g.80816360C>G , CM000668.1:g.80816360C>G GRCh37
NC_000006.10:g.80873079C>G NCBI36
NG_009775.1:g.5017C>G
NG_009775.2:g.5017C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000056.3:c.-51C>G NP_000047.1:n.-51C>G
NM_183050.2:c.-51C>G NP_898871.1:n.-51C>G
NM_000056.4:c.-51C>G NP_000047.1:n.-51C>G
NM_001318975.1:c.-55C>G NP_001305904.1:n.-55C>G
NM_183050.3:c.-51C>G NP_898871.1:n.-51C>G
NR_134945.1:n.34C>G