Canonical Allele Identifier: CA3902864

Gene: BCKDHB

Linked Data

• dbSNP Id: rs771993664
• ExAC: 6:81053521 A / C
• gnomAD v2: 6-81053521-A-C
• gnomAD v4: 6-80343804-A-C
• MyVariant Identifiers: chr6:g.81053521A>C (hg19) ; chr6:g.80343804A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343804A>C , CM000668.2:g.80343804A>C	GRCh38
NC_000006.11:g.81053521A>C , CM000668.1:g.81053521A>C	GRCh37
NC_000006.10:g.81110240A>C	NCBI36
NG_009775.1:g.242178A>C
NG_009775.2:g.242178A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1179A>C MANE Select	ENSP00000318351.5:p.Ter393Cys
ENST00000320393.8:c.1179A>C	ENSP00000318351.5:p.Ter393Cys
ENST00000356489.9:c.1179A>C	ENSP00000348880.5:p.Ter393Cys
ENST00000491328.1:n.234A>C
NM_000056.3:c.1179A>C	NP_000047.1:p.Ter393Cys
NM_183050.2:c.1179A>C	NP_898871.1:p.Ter393Cys
XM_006715542.2:c.969A>C	XP_006715605.1:p.Ter323Cys
XM_011536024.1:c.*185A>C	XP_011534326.1:n.*185A>C
XM_011536026.1:c.969A>C	XP_011534328.1:p.Ter323Cys
NM_000056.4:c.1179A>C	NP_000047.1:p.Ter393Cys
NM_001318975.1:c.969A>C	NP_001305904.1:p.Ter323Cys
NM_183050.3:c.1179A>C	NP_898871.1:p.Ter393Cys
NR_134945.1:n.1357A>C
XM_011536024.3:c.*185A>C	XP_011534326.1:n.*185A>C
XR_001743546.2:n.1068+70583A>C
XR_001743547.2:n.1068+70583A>C
XR_001743548.2:n.1068+70583A>C
XR_001743549.2:n.1068+70583A>C
XR_002956292.1:n.1068+70583A>C
NM_183050.4:c.1179A>C MANE Select	NP_898871.1:p.Ter393Cys
NR_134945.2:n.1296A>C
NM_000056.5:c.1179A>C	NP_000047.1:p.Ter393Cys