Canonical Allele Identifier: CA371731951

Gene: INTS8

Linked Data

• dbSNP Id: rs1388027926
• gnomAD v2: 8-95839991-A-G
• gnomAD v4: 8-94827763-A-G
• MyVariant Identifiers: chr8:g.95839991A>G (hg19) ; chr8:g.94827763A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827763A>G , CM000670.2:g.94827763A>G	GRCh38
NC_000008.10:g.95839991A>G , CM000670.1:g.95839991A>G	GRCh37
NC_000008.9:g.95909167A>G	NCBI36
NG_047163.1:g.19453A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.488A>G MANE Select	ENSP00000430338.1:p.Gln163Arg
ENST00000343161.8:c.488A>G	ENSP00000343274.4:p.Gln163Arg
ENST00000519053.5:c.161A>G	ENSP00000429056.1:p.Gln54Arg
ENST00000519457.5:c.347A>G	ENSP00000428260.1:p.Gln116Arg
ENST00000521860.5:c.450A>G
ENST00000522171.5:c.365A>G	ENSP00000429340.1:p.Gln122Arg
ENST00000523206.5:c.488A>G	ENSP00000429452.1:p.Gln163Arg
ENST00000523321.5:n.613A>G
ENST00000523731.5:c.488A>G	ENSP00000430338.1:p.Gln163Arg
ENST00000524333.5:c.488A>G	ENSP00000427840.1:p.Gln163Arg
NM_017864.3:c.488A>G	NP_060334.2:p.Gln163Arg
NR_073444.1:n.630A>G
NR_073445.1:n.630A>G
XM_006716602.2:c.488A>G	XP_006716665.1:p.Gln163Arg
XM_006716603.2:c.161A>G	XP_006716666.1:p.Gln54Arg
XM_011517155.1:c.365A>G	XP_011515457.1:p.Gln122Arg
XM_011517156.1:c.488A>G	XP_011515458.1:p.Gln163Arg
XM_011517157.1:c.161A>G	XP_011515459.1:p.Gln54Arg
XM_017013616.1:c.488A>G	XP_016869105.1:p.Gln163Arg
XM_017013617.1:c.488A>G	XP_016869106.1:p.Gln163Arg
XM_017013618.1:c.161A>G	XP_016869107.1:p.Gln54Arg
XM_017013619.1:c.-796A>G	XP_016869108.1:n.-796A>G
NM_017864.4:c.488A>G MANE Select	NP_060334.2:p.Gln163Arg
NR_073444.2:n.633A>G
NR_073445.2:n.633A>G