Canonical Allele Identifier: CA2578760109

Gene: BCKDHB

Genomic Alleles

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

Transcript Alleles

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