Canonical Allele Identifier: CA2679499398

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80343875-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343875C>T , CM000668.2:g.80343875C>T	GRCh38
NC_000006.11:g.81053592C>T , CM000668.1:g.81053592C>T	GRCh37
NC_000006.10:g.81110311C>T	NCBI36
NG_009775.1:g.242249C>T
NG_009775.2:g.242249C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*71C>T MANE Select	ENSP00000318351.5:n.*71C>T
ENST00000320393.8:c.*71C>T	ENSP00000318351.5:n.*71C>T
ENST00000356489.9:c.*8+63C>T	ENSP00000348880.5:n.*8+63C>T
ENST00000491328.1:n.242+63C>T
NM_000056.3:c.*8+63C>T	NP_000047.1:n.*8+63C>T
NM_183050.2:c.*71C>T	NP_898871.1:n.*71C>T
NM_000056.4:c.*8+63C>T	NP_000047.1:n.*8+63C>T
NM_001318975.1:c.*71C>T	NP_001305904.1:n.*71C>T
NM_183050.3:c.*71C>T	NP_898871.1:n.*71C>T
NR_134945.1:n.1428C>T
XM_011536024.3:c.*256C>T	XP_011534326.1:n.*256C>T
XR_001743546.2:n.1068+70654C>T
XR_001743547.2:n.1068+70654C>T
XR_001743548.2:n.1068+70654C>T
XR_001743549.2:n.1068+70654C>T
XR_002956292.1:n.1068+70654C>T
NM_183050.4:c.*71C>T MANE Select	NP_898871.1:n.*71C>T
NR_134945.2:n.1367C>T
NM_000056.5:c.*8+63C>T	NP_000047.1:n.*8+63C>T