Canonical Allele Identifier: CA2712228924

Gene: BCKDHB

Linked Data

• dbSNP Id: rs2128020824

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343897A>T , CM000668.2:g.80343897A>T	GRCh38
NC_000006.11:g.81053614A>T , CM000668.1:g.81053614A>T	GRCh37
NC_000006.10:g.81110333A>T	NCBI36
NG_009775.1:g.242271A>T
NG_009775.2:g.242271A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*93A>T MANE Select	ENSP00000318351.5:n.*93A>T
ENST00000320393.8:c.*93A>T	ENSP00000318351.5:n.*93A>T
ENST00000356489.9:c.*8+85A>T	ENSP00000348880.5:n.*8+85A>T
ENST00000491328.1:n.242+85A>T
NM_000056.3:c.*8+85A>T	NP_000047.1:n.*8+85A>T
NM_183050.2:c.*93A>T	NP_898871.1:n.*93A>T
NM_000056.4:c.*8+85A>T	NP_000047.1:n.*8+85A>T
NM_001318975.1:c.*93A>T	NP_001305904.1:n.*93A>T
NM_183050.3:c.*93A>T	NP_898871.1:n.*93A>T
NR_134945.1:n.1450A>T
XM_011536024.3:c.*278A>T	XP_011534326.1:n.*278A>T
XR_001743546.2:n.1068+70676A>T
XR_001743547.2:n.1068+70676A>T
XR_001743548.2:n.1068+70676A>T
XR_001743549.2:n.1068+70676A>T
XR_002956292.1:n.1068+70676A>T
NM_183050.4:c.*93A>T MANE Select	NP_898871.1:n.*93A>T
NR_134945.2:n.1389A>T
NM_000056.5:c.*8+85A>T	NP_000047.1:n.*8+85A>T