Canonical Allele Identifier: CA2771869595

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343850G>T , CM000668.2:g.80343850G>T	GRCh38
NC_000006.11:g.81053567G>T , CM000668.1:g.81053567G>T	GRCh37
NC_000006.10:g.81110286G>T	NCBI36
NG_009775.1:g.242224G>T
NG_009775.2:g.242224G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*46G>T MANE Select	ENSP00000318351.5:n.*46G>T
ENST00000320393.8:c.*46G>T	ENSP00000318351.5:n.*46G>T
ENST00000356489.9:c.*8+38G>T	ENSP00000348880.5:n.*8+38G>T
ENST00000491328.1:n.242+38G>T
NM_000056.3:c.*8+38G>T	NP_000047.1:n.*8+38G>T
NM_183050.2:c.*46G>T	NP_898871.1:n.*46G>T
NM_000056.4:c.*8+38G>T	NP_000047.1:n.*8+38G>T
NM_001318975.1:c.*46G>T	NP_001305904.1:n.*46G>T
NM_183050.3:c.*46G>T	NP_898871.1:n.*46G>T
NR_134945.1:n.1403G>T
XM_011536024.3:c.*231G>T	XP_011534326.1:n.*231G>T
XR_001743546.2:n.1068+70629G>T
XR_001743547.2:n.1068+70629G>T
XR_001743548.2:n.1068+70629G>T
XR_001743549.2:n.1068+70629G>T
XR_002956292.1:n.1068+70629G>T
NM_183050.4:c.*46G>T MANE Select	NP_898871.1:n.*46G>T
NR_134945.2:n.1342G>T
NM_000056.5:c.*8+38G>T	NP_000047.1:n.*8+38G>T