Canonical Allele Identifier: CA1641009926

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1582601040

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343865T>C , CM000668.2:g.80343865T>C	GRCh38
NC_000006.11:g.81053582T>C , CM000668.1:g.81053582T>C	GRCh37
NC_000006.10:g.81110301T>C	NCBI36
NG_009775.1:g.242239T>C
NG_009775.2:g.242239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*61T>C MANE Select	ENSP00000318351.5:n.*61T>C
ENST00000320393.8:c.*61T>C	ENSP00000318351.5:n.*61T>C
ENST00000356489.9:c.*8+53T>C	ENSP00000348880.5:n.*8+53T>C
ENST00000491328.1:n.242+53T>C
NM_000056.3:c.*8+53T>C	NP_000047.1:n.*8+53T>C
NM_183050.2:c.*61T>C	NP_898871.1:n.*61T>C
NM_000056.4:c.*8+53T>C	NP_000047.1:n.*8+53T>C
NM_001318975.1:c.*61T>C	NP_001305904.1:n.*61T>C
NM_183050.3:c.*61T>C	NP_898871.1:n.*61T>C
NR_134945.1:n.1418T>C
XM_011536024.3:c.*246T>C	XP_011534326.1:n.*246T>C
XR_001743546.2:n.1068+70644T>C
XR_001743547.2:n.1068+70644T>C
XR_001743548.2:n.1068+70644T>C
XR_001743549.2:n.1068+70644T>C
XR_002956292.1:n.1068+70644T>C
NM_183050.4:c.*61T>C MANE Select	NP_898871.1:n.*61T>C
NR_134945.2:n.1357T>C
NM_000056.5:c.*8+53T>C	NP_000047.1:n.*8+53T>C