Canonical Allele Identifier: CA371732010
Gene: INTS8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.94827790G>T , CM000670.2:g.94827790G>T GRCh38
NC_000008.10:g.95840018G>T , CM000670.1:g.95840018G>T GRCh37
NC_000008.9:g.95909194G>T NCBI36
NG_047163.1:g.19480G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000523731.6:c.515G>T MANE Select ENSP00000430338.1:p.Ser172Ile
ENST00000343161.8:c.515G>T ENSP00000343274.4:p.Ser172Ile
ENST00000519053.5:c.188G>T ENSP00000429056.1:p.Ser63Ile
ENST00000519457.5:c.374G>T ENSP00000428260.1:p.Ser125Ile
ENST00000521860.5:c.477G>T
ENST00000522171.5:c.392G>T ENSP00000429340.1:p.Ser131Ile
ENST00000523206.5:c.515G>T ENSP00000429452.1:p.Ser172Ile
ENST00000523321.5:n.640G>T
ENST00000523731.5:c.515G>T ENSP00000430338.1:p.Ser172Ile
ENST00000524333.5:c.515G>T ENSP00000427840.1:p.Ser172Ile
NM_017864.3:c.515G>T NP_060334.2:p.Ser172Ile
NR_073444.1:n.657G>T
NR_073445.1:n.657G>T
XM_006716602.2:c.515G>T XP_006716665.1:p.Ser172Ile
XM_006716603.2:c.188G>T XP_006716666.1:p.Ser63Ile
XM_011517155.1:c.392G>T XP_011515457.1:p.Ser131Ile
XM_011517156.1:c.515G>T XP_011515458.1:p.Ser172Ile
XM_011517157.1:c.188G>T XP_011515459.1:p.Ser63Ile
XM_017013616.1:c.515G>T XP_016869105.1:p.Ser172Ile
XM_017013617.1:c.515G>T XP_016869106.1:p.Ser172Ile
XM_017013618.1:c.188G>T XP_016869107.1:p.Ser63Ile
XM_017013619.1:c.-769G>T XP_016869108.1:n.-769G>T
NM_017864.4:c.515G>T MANE Select NP_060334.2:p.Ser172Ile
NR_073444.2:n.660G>T
NR_073445.2:n.660G>T