Canonical Allele Identifier: CA371732018
Gene: INTS8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.94827793T>G , CM000670.2:g.94827793T>G GRCh38
NC_000008.10:g.95840021T>G , CM000670.1:g.95840021T>G GRCh37
NC_000008.9:g.95909197T>G NCBI36
NG_047163.1:g.19483T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000523731.6:c.518T>G MANE Select ENSP00000430338.1:p.Val173Gly
ENST00000343161.8:c.518T>G ENSP00000343274.4:p.Val173Gly
ENST00000519053.5:c.191T>G ENSP00000429056.1:p.Val64Gly
ENST00000519457.5:c.377T>G ENSP00000428260.1:p.Val126Gly
ENST00000521860.5:c.480T>G
ENST00000522171.5:c.395T>G ENSP00000429340.1:p.Val132Gly
ENST00000523206.5:c.518T>G ENSP00000429452.1:p.Val173Gly
ENST00000523321.5:n.643T>G
ENST00000523731.5:c.518T>G ENSP00000430338.1:p.Val173Gly
ENST00000524333.5:c.518T>G ENSP00000427840.1:p.Val173Gly
NM_017864.3:c.518T>G NP_060334.2:p.Val173Gly
NR_073444.1:n.660T>G
NR_073445.1:n.660T>G
XM_006716602.2:c.518T>G XP_006716665.1:p.Val173Gly
XM_006716603.2:c.191T>G XP_006716666.1:p.Val64Gly
XM_011517155.1:c.395T>G XP_011515457.1:p.Val132Gly
XM_011517156.1:c.518T>G XP_011515458.1:p.Val173Gly
XM_011517157.1:c.191T>G XP_011515459.1:p.Val64Gly
XM_017013616.1:c.518T>G XP_016869105.1:p.Val173Gly
XM_017013617.1:c.518T>G XP_016869106.1:p.Val173Gly
XM_017013618.1:c.191T>G XP_016869107.1:p.Val64Gly
XM_017013619.1:c.-766T>G XP_016869108.1:n.-766T>G
NM_017864.4:c.518T>G MANE Select NP_060334.2:p.Val173Gly
NR_073444.2:n.663T>G
NR_073445.2:n.663T>G