Canonical Allele Identifier: CA16609446
Gene: BCKDHB HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.80343715G>A
GRCh37 chr6:g.81053432G>A
Revel Score:
ENST00000320393 (MANE Select) 0.870
ENST00000356489 0.870
ENST00000541767 0.870
gnomAD v2:
6:81053432 G / A
gnomAD v4:
chr6-80343715-G-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000449516
ClinVar Variation:
397610
dbSNP:
1060499715
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80343715G>A , CM000668.2:g.80343715G>A GRCh38
NC_000006.11:g.81053432G>A , CM000668.1:g.81053432G>A GRCh37
NC_000006.10:g.81110151G>A NCBI36
NG_009775.1:g.242089G>A
NG_009775.2:g.242089G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320393.9:c.1090G>A MANE Select ENSP00000318351.5:p.Asp364Asn
ENST00000320393.8:c.1090G>A ENSP00000318351.5:p.Asp364Asn
ENST00000356489.9:c.1090G>A ENSP00000348880.5:p.Asp364Asn
ENST00000491328.1:n.145G>A
NM_000056.3:c.1090G>A NP_000047.1:p.Asp364Asn
NM_183050.2:c.1090G>A NP_898871.1:p.Asp364Asn
XM_006715542.2:c.880G>A XP_006715605.1:p.Asp294Asn
XM_011536024.1:c.*96G>A XP_011534326.1:n.*96G>A
XM_011536026.1:c.880G>A XP_011534328.1:p.Asp294Asn
NM_000056.4:c.1090G>A NP_000047.1:p.Asp364Asn
NM_001318975.1:c.880G>A NP_001305904.1:p.Asp294Asn
NM_183050.3:c.1090G>A NP_898871.1:p.Asp364Asn
NR_134945.1:n.1268G>A
XM_011536024.3:c.*96G>A XP_011534326.1:n.*96G>A
XR_001743546.2:n.1068+70494G>A
XR_001743547.2:n.1068+70494G>A
XR_001743548.2:n.1068+70494G>A
XR_001743549.2:n.1068+70494G>A
XR_002956292.1:n.1068+70494G>A
NM_183050.4:c.1090G>A MANE Select NP_898871.1:p.Asp364Asn
NR_134945.2:n.1207G>A
NM_000056.5:c.1090G>A NP_000047.1:p.Asp364Asn
Search 100 bp 5'
Search 100 bp 3'