Canonical Allele Identifier: CA1640908570
Gene: BCKDHB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106644C= , CM000668.2:g.80106644C= GRCh38
NC_000006.11:g.80816361C= , CM000668.1:g.80816361C= GRCh37
NC_000006.10:g.80873080C= NCBI36
NG_009775.1:g.5018C=
NG_009775.2:g.5018C=

Transcript Alleles

HGVS Amino-acid Change
NM_000056.3:c.-50C= NP_000047.1:n.-50C=
NM_183050.2:c.-50C= NP_898871.1:n.-50C=
XM_006715542.2:c.-54C= XP_006715605.1:n.-54C=
NM_000056.4:c.-50C= NP_000047.1:n.-50C=
NM_001318975.1:c.-54C= NP_001305904.1:n.-54C=
NM_183050.3:c.-50C= NP_898871.1:n.-50C=
NR_134945.1:n.35C=
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