Canonical Allele Identifier: CA4813969

Gene: INTS8

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94876079C>T , CM000670.2:g.94876079C>T	GRCh38
NC_000008.10:g.95888307C>T , CM000670.1:g.95888307C>T	GRCh37
NC_000008.9:g.95957483C>T	NCBI36
NG_047163.1:g.67769C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017864.4:c.2694C>T MANE Select	NP_060334.2:p.Ala898=
ENST00000523731.6:c.2694C>T MANE Select	ENSP00000430338.1:p.Ala898=
NM_017864.3:c.2694C>T	NP_060334.2:p.Ala898=
NR_073444.1:n.3010C>T
NR_073444.2:n.3013C>T
NR_073445.1:n.2927C>T
NR_073445.2:n.2930C>T
ENST00000343161.8:c.*591C>T	ENSP00000343274.4:n.*591C>T
ENST00000520526.5:c.2108C>T
ENST00000521155.5:n.508C>T
ENST00000523206.5:c.*1909C>T	ENSP00000429452.1:n.*1909C>T
ENST00000523731.5:c.2694C>T	ENSP00000430338.1:p.Ala898=
ENST00000523998.1:n.129C>T
ENST00000524333.5:c.*1876C>T	ENSP00000427840.1:n.*1876C>T
XM_006716602.2:c.2538C>T	XP_006716665.1:p.Ala846=
XM_006716603.2:c.2367C>T	XP_006716666.1:p.Ala789=
XM_011517155.1:c.2571C>T	XP_011515457.1:p.Ala857=
XM_011517156.1:c.2430C>T	XP_011515458.1:p.Ala810=
XM_011517157.1:c.2367C>T	XP_011515459.1:p.Ala789=
XM_017013616.1:c.2694C>T	XP_016869105.1:p.Ala898=
XM_017013617.1:c.2475C>T	XP_016869106.1:p.Ala825=
XM_017013618.1:c.2103C>T	XP_016869107.1:p.Ala701=
XM_017013619.1:c.1380C>T	XP_016869108.1:p.Ala460=