Canonical Allele Identifier: CA4813318

Gene: INTS8

Linked Data

• dbSNP Id: rs781019304
• ExAC: 8:95840014 T / A
• gnomAD v2: 8-95840014-T-A
• gnomAD v4: 8-94827786-T-A
• MyVariant Identifiers: chr8:g.95840014T>A (hg19) ; chr8:g.94827786T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827786T>A , CM000670.2:g.94827786T>A	GRCh38
NC_000008.10:g.95840014T>A , CM000670.1:g.95840014T>A	GRCh37
NC_000008.9:g.95909190T>A	NCBI36
NG_047163.1:g.19476T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.511T>A MANE Select	ENSP00000430338.1:p.Leu171Ile
ENST00000343161.8:c.511T>A	ENSP00000343274.4:p.Leu171Ile
ENST00000519053.5:c.184T>A	ENSP00000429056.1:p.Leu62Ile
ENST00000519457.5:c.370T>A	ENSP00000428260.1:p.Leu124Ile
ENST00000521860.5:c.473T>A
ENST00000522171.5:c.388T>A	ENSP00000429340.1:p.Leu130Ile
ENST00000523206.5:c.511T>A	ENSP00000429452.1:p.Leu171Ile
ENST00000523321.5:n.636T>A
ENST00000523731.5:c.511T>A	ENSP00000430338.1:p.Leu171Ile
ENST00000524333.5:c.511T>A	ENSP00000427840.1:p.Leu171Ile
NM_017864.3:c.511T>A	NP_060334.2:p.Leu171Ile
NR_073444.1:n.653T>A
NR_073445.1:n.653T>A
XM_006716602.2:c.511T>A	XP_006716665.1:p.Leu171Ile
XM_006716603.2:c.184T>A	XP_006716666.1:p.Leu62Ile
XM_011517155.1:c.388T>A	XP_011515457.1:p.Leu130Ile
XM_011517156.1:c.511T>A	XP_011515458.1:p.Leu171Ile
XM_011517157.1:c.184T>A	XP_011515459.1:p.Leu62Ile
XM_017013616.1:c.511T>A	XP_016869105.1:p.Leu171Ile
XM_017013617.1:c.511T>A	XP_016869106.1:p.Leu171Ile
XM_017013618.1:c.184T>A	XP_016869107.1:p.Leu62Ile
XM_017013619.1:c.-773T>A	XP_016869108.1:n.-773T>A
NM_017864.4:c.511T>A MANE Select	NP_060334.2:p.Leu171Ile
NR_073444.2:n.656T>A
NR_073445.2:n.656T>A