Canonical Allele Identifier: CA365021639

Gene: BCKDHB

Linked Data

• MyVariant Identifiers: chr6:g.81053511T>C (hg19) ; chr6:g.80343794T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343794T>C , CM000668.2:g.80343794T>C	GRCh38
NC_000006.11:g.81053511T>C , CM000668.1:g.81053511T>C	GRCh37
NC_000006.10:g.81110230T>C	NCBI36
NG_009775.1:g.242168T>C
NG_009775.2:g.242168T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1169T>C MANE Select	ENSP00000318351.5:p.Ile390Thr
ENST00000320393.8:c.1169T>C	ENSP00000318351.5:p.Ile390Thr
ENST00000356489.9:c.1169T>C	ENSP00000348880.5:p.Ile390Thr
ENST00000491328.1:n.224T>C
NM_000056.3:c.1169T>C	NP_000047.1:p.Ile390Thr
NM_183050.2:c.1169T>C	NP_898871.1:p.Ile390Thr
XM_006715542.2:c.959T>C	XP_006715605.1:p.Ile320Thr
XM_011536024.1:c.*175T>C	XP_011534326.1:n.*175T>C
XM_011536026.1:c.959T>C	XP_011534328.1:p.Ile320Thr
NM_000056.4:c.1169T>C	NP_000047.1:p.Ile390Thr
NM_001318975.1:c.959T>C	NP_001305904.1:p.Ile320Thr
NM_183050.3:c.1169T>C	NP_898871.1:p.Ile390Thr
NR_134945.1:n.1347T>C
XM_011536024.3:c.*175T>C	XP_011534326.1:n.*175T>C
XR_001743546.2:n.1068+70573T>C
XR_001743547.2:n.1068+70573T>C
XR_001743548.2:n.1068+70573T>C
XR_001743549.2:n.1068+70573T>C
XR_002956292.1:n.1068+70573T>C
NM_183050.4:c.1169T>C MANE Select	NP_898871.1:p.Ile390Thr
NR_134945.2:n.1286T>C
NM_000056.5:c.1169T>C	NP_000047.1:p.Ile390Thr