Canonical Allele Identifier: CA3902514
Gene: BCKDHB HGNC NCBI

Linked Data

dbSNP Id: rs762735395
gnomAD v2: 6-80816585-G-A
gnomAD v3: 6-80106868-G-A
gnomAD v4: 6-80106868-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106868G>A , CM000668.2:g.80106868G>A GRCh38
NC_000006.11:g.80816585G>A , CM000668.1:g.80816585G>A GRCh37
NC_000006.10:g.80873304G>A NCBI36
NG_009775.1:g.5242G>A
NG_009775.2:g.5242G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320393.9:c.175G>A MANE Select ENSP00000318351.5:p.Asp59Asn
ENST00000320393.8:c.175G>A ENSP00000318351.5:p.Asp59Asn
ENST00000356489.9:c.175G>A ENSP00000348880.5:p.Asp59Asn
ENST00000369760.8:c.175G>A ENSP00000358775.4:p.Asp59Asn
NM_000056.3:c.175G>A NP_000047.1:p.Asp59Asn
NM_183050.2:c.175G>A NP_898871.1:p.Asp59Asn
XM_005248756.3:c.175G>A XP_005248813.1:p.Asp59Asn
XM_006715542.2:c.-15+185G>A XP_006715605.1:n.-15+185G>A
XM_011536023.1:c.175G>A XP_011534325.1:p.Asp59Asn
XM_011536024.1:c.175G>A XP_011534326.1:p.Asp59Asn
XM_011536025.1:c.175G>A XP_011534327.1:p.Asp59Asn
XM_011536027.1:c.175G>A XP_011534329.1:p.Asp59Asn
NM_000056.4:c.175G>A NP_000047.1:p.Asp59Asn
NM_001318975.1:c.-15+185G>A NP_001305904.1:n.-15+185G>A
NM_183050.3:c.175G>A NP_898871.1:p.Asp59Asn
NR_134945.1:n.259G>A
XM_005248756.5:c.175G>A XP_005248813.1:p.Asp59Asn
XM_011536023.3:c.175G>A XP_011534325.1:p.Asp59Asn
XM_011536024.3:c.175G>A XP_011534326.1:p.Asp59Asn
XM_011536025.3:c.175G>A XP_011534327.1:p.Asp59Asn
XR_001743546.2:n.205G>A
XR_001743547.2:n.205G>A
XR_001743548.2:n.205G>A
XR_001743549.2:n.205G>A
XR_002956292.1:n.205G>A
NM_183050.4:c.175G>A MANE Select NP_898871.1:p.Asp59Asn
NR_134945.2:n.198G>A
NM_000056.5:c.175G>A NP_000047.1:p.Asp59Asn