Canonical Allele Identifier: CA2679499415

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80343907-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343907A>T , CM000668.2:g.80343907A>T	GRCh38
NC_000006.11:g.81053624A>T , CM000668.1:g.81053624A>T	GRCh37
NC_000006.10:g.81110343A>T	NCBI36
NG_009775.1:g.242281A>T
NG_009775.2:g.242281A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*103A>T MANE Select	ENSP00000318351.5:n.*103A>T
ENST00000320393.8:c.*103A>T	ENSP00000318351.5:n.*103A>T
ENST00000356489.9:c.*8+95A>T	ENSP00000348880.5:n.*8+95A>T
ENST00000491328.1:n.242+95A>T
NM_000056.3:c.*8+95A>T	NP_000047.1:n.*8+95A>T
NM_183050.2:c.*103A>T	NP_898871.1:n.*103A>T
NM_000056.4:c.*8+95A>T	NP_000047.1:n.*8+95A>T
NM_001318975.1:c.*103A>T	NP_001305904.1:n.*103A>T
NM_183050.3:c.*103A>T	NP_898871.1:n.*103A>T
NR_134945.1:n.1460A>T
XM_011536024.3:c.*288A>T	XP_011534326.1:n.*288A>T
XR_001743546.2:n.1068+70686A>T
XR_001743547.2:n.1068+70686A>T
XR_001743548.2:n.1068+70686A>T
XR_001743549.2:n.1068+70686A>T
XR_002956292.1:n.1068+70686A>T
NM_183050.4:c.*103A>T MANE Select	NP_898871.1:n.*103A>T
NR_134945.2:n.1399A>T
NM_000056.5:c.*8+95A>T	NP_000047.1:n.*8+95A>T