Canonical Allele Identifier: CA365021660

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80343803-G-T
• MyVariant Identifiers: chr6:g.81053520G>T (hg19) ; chr6:g.80343803G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343803G>T , CM000668.2:g.80343803G>T	GRCh38
NC_000006.11:g.81053520G>T , CM000668.1:g.81053520G>T	GRCh37
NC_000006.10:g.81110239G>T	NCBI36
NG_009775.1:g.242177G>T
NG_009775.2:g.242177G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1178G>T MANE Select	ENSP00000318351.5:p.Ter393Leu
ENST00000320393.8:c.1178G>T	ENSP00000318351.5:p.Ter393Leu
ENST00000356489.9:c.1178G>T	ENSP00000348880.5:p.Ter393Leu
ENST00000491328.1:n.233G>T
NM_000056.3:c.1178G>T	NP_000047.1:p.Ter393Leu
NM_183050.2:c.1178G>T	NP_898871.1:p.Ter393Leu
XM_006715542.2:c.968G>T	XP_006715605.1:p.Ter323Leu
XM_011536024.1:c.*184G>T	XP_011534326.1:n.*184G>T
XM_011536026.1:c.968G>T	XP_011534328.1:p.Ter323Leu
NM_000056.4:c.1178G>T	NP_000047.1:p.Ter393Leu
NM_001318975.1:c.968G>T	NP_001305904.1:p.Ter323Leu
NM_183050.3:c.1178G>T	NP_898871.1:p.Ter393Leu
NR_134945.1:n.1356G>T
XM_011536024.3:c.*184G>T	XP_011534326.1:n.*184G>T
XR_001743546.2:n.1068+70582G>T
XR_001743547.2:n.1068+70582G>T
XR_001743548.2:n.1068+70582G>T
XR_001743549.2:n.1068+70582G>T
XR_002956292.1:n.1068+70582G>T
NM_183050.4:c.1178G>T MANE Select	NP_898871.1:p.Ter393Leu
NR_134945.2:n.1295G>T
NM_000056.5:c.1178G>T	NP_000047.1:p.Ter393Leu