Canonical Allele Identifier: CA371731995

Gene: INTS8

Linked Data

• MyVariant Identifiers: chr8:g.95840012A>T (hg19) ; chr8:g.94827784A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827784A>T , CM000670.2:g.94827784A>T	GRCh38
NC_000008.10:g.95840012A>T , CM000670.1:g.95840012A>T	GRCh37
NC_000008.9:g.95909188A>T	NCBI36
NG_047163.1:g.19474A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.509A>T MANE Select	ENSP00000430338.1:p.Gln170Leu
ENST00000343161.8:c.509A>T	ENSP00000343274.4:p.Gln170Leu
ENST00000519053.5:c.182A>T	ENSP00000429056.1:p.Gln61Leu
ENST00000519457.5:c.368A>T	ENSP00000428260.1:p.Gln123Leu
ENST00000521860.5:c.471A>T
ENST00000522171.5:c.386A>T	ENSP00000429340.1:p.Gln129Leu
ENST00000523206.5:c.509A>T	ENSP00000429452.1:p.Gln170Leu
ENST00000523321.5:n.634A>T
ENST00000523731.5:c.509A>T	ENSP00000430338.1:p.Gln170Leu
ENST00000524333.5:c.509A>T	ENSP00000427840.1:p.Gln170Leu
NM_017864.3:c.509A>T	NP_060334.2:p.Gln170Leu
NR_073444.1:n.651A>T
NR_073445.1:n.651A>T
XM_006716602.2:c.509A>T	XP_006716665.1:p.Gln170Leu
XM_006716603.2:c.182A>T	XP_006716666.1:p.Gln61Leu
XM_011517155.1:c.386A>T	XP_011515457.1:p.Gln129Leu
XM_011517156.1:c.509A>T	XP_011515458.1:p.Gln170Leu
XM_011517157.1:c.182A>T	XP_011515459.1:p.Gln61Leu
XM_017013616.1:c.509A>T	XP_016869105.1:p.Gln170Leu
XM_017013617.1:c.509A>T	XP_016869106.1:p.Gln170Leu
XM_017013618.1:c.182A>T	XP_016869107.1:p.Gln61Leu
XM_017013619.1:c.-775A>T	XP_016869108.1:n.-775A>T
NM_017864.4:c.509A>T MANE Select	NP_060334.2:p.Gln170Leu
NR_073444.2:n.654A>T
NR_073445.2:n.654A>T