Canonical Allele Identifier: CA371732013
Gene: INTS8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.94827792G>A , CM000670.2:g.94827792G>A GRCh38
NC_000008.10:g.95840020G>A , CM000670.1:g.95840020G>A GRCh37
NC_000008.9:g.95909196G>A NCBI36
NG_047163.1:g.19482G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000523731.6:c.517G>A MANE Select ENSP00000430338.1:p.Val173Ile
ENST00000343161.8:c.517G>A ENSP00000343274.4:p.Val173Ile
ENST00000519053.5:c.190G>A ENSP00000429056.1:p.Val64Ile
ENST00000519457.5:c.376G>A ENSP00000428260.1:p.Val126Ile
ENST00000521860.5:c.479G>A
ENST00000522171.5:c.394G>A ENSP00000429340.1:p.Val132Ile
ENST00000523206.5:c.517G>A ENSP00000429452.1:p.Val173Ile
ENST00000523321.5:n.642G>A
ENST00000523731.5:c.517G>A ENSP00000430338.1:p.Val173Ile
ENST00000524333.5:c.517G>A ENSP00000427840.1:p.Val173Ile
NM_017864.3:c.517G>A NP_060334.2:p.Val173Ile
NR_073444.1:n.659G>A
NR_073445.1:n.659G>A
XM_006716602.2:c.517G>A XP_006716665.1:p.Val173Ile
XM_006716603.2:c.190G>A XP_006716666.1:p.Val64Ile
XM_011517155.1:c.394G>A XP_011515457.1:p.Val132Ile
XM_011517156.1:c.517G>A XP_011515458.1:p.Val173Ile
XM_011517157.1:c.190G>A XP_011515459.1:p.Val64Ile
XM_017013616.1:c.517G>A XP_016869105.1:p.Val173Ile
XM_017013617.1:c.517G>A XP_016869106.1:p.Val173Ile
XM_017013618.1:c.190G>A XP_016869107.1:p.Val64Ile
XM_017013619.1:c.-767G>A XP_016869108.1:n.-767G>A
NM_017864.4:c.517G>A MANE Select NP_060334.2:p.Val173Ile
NR_073444.2:n.662G>A
NR_073445.2:n.662G>A