Canonical Allele Identifier: CA364657717
Gene: BCKDHB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80168887G>T , CM000668.2:g.80168887G>T GRCh38
NC_000006.11:g.80878604G>T , CM000668.1:g.80878604G>T GRCh37
NC_000006.10:g.80935323G>T NCBI36
NG_009775.1:g.67261G>T
NG_009775.2:g.67261G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320393.9:c.490G>T MANE Select ENSP00000318351.5:p.Ala164Ser
ENST00000320393.8:c.490G>T ENSP00000318351.5:p.Ala164Ser
ENST00000356489.9:c.490G>T ENSP00000348880.5:p.Ala164Ser
ENST00000369760.8:c.490G>T ENSP00000358775.4:p.Ala164Ser
NM_000056.3:c.490G>T NP_000047.1:p.Ala164Ser
NM_183050.2:c.490G>T NP_898871.1:p.Ala164Ser
XM_005248756.3:c.490G>T XP_005248813.1:p.Ala164Ser
XM_006715542.2:c.280G>T XP_006715605.1:p.Ala94Ser
XM_011536023.1:c.490G>T XP_011534325.1:p.Ala164Ser
XM_011536024.1:c.490G>T XP_011534326.1:p.Ala164Ser
XM_011536025.1:c.490G>T XP_011534327.1:p.Ala164Ser
XM_011536026.1:c.280G>T XP_011534328.1:p.Ala94Ser
XM_011536027.1:c.490G>T XP_011534329.1:p.Ala164Ser
NM_000056.4:c.490G>T NP_000047.1:p.Ala164Ser
NM_001318975.1:c.280G>T NP_001305904.1:p.Ala94Ser
NM_183050.3:c.490G>T NP_898871.1:p.Ala164Ser
NR_134945.1:n.574G>T
XM_005248756.5:c.490G>T XP_005248813.1:p.Ala164Ser
XM_011536023.3:c.490G>T XP_011534325.1:p.Ala164Ser
XM_011536024.3:c.490G>T XP_011534326.1:p.Ala164Ser
XM_011536025.3:c.490G>T XP_011534327.1:p.Ala164Ser
XR_001743546.2:n.520G>T
XR_001743547.2:n.520G>T
XR_001743548.2:n.520G>T
XR_001743549.2:n.520G>T
XR_002956292.1:n.520G>T
NM_183050.4:c.490G>T MANE Select NP_898871.1:p.Ala164Ser
NR_134945.2:n.513G>T
NM_000056.5:c.490G>T NP_000047.1:p.Ala164Ser