Canonical Allele Identifier: CA2566971950

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106611A>C , CM000668.2:g.80106611A>C	GRCh38
NC_000006.11:g.80816328A>C , CM000668.1:g.80816328A>C	GRCh37
NC_000006.10:g.80873047A>C	NCBI36
NG_009775.1:g.4985A>C
NG_009775.2:g.4985A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000056.4:c.-83A>C	NP_000047.1:n.-83A>C
NM_001318975.1:c.-87A>C	NP_001305904.1:n.-87A>C
NM_183050.3:c.-83A>C	NP_898871.1:n.-83A>C
NR_134945.1:n.2A>C