Canonical Allele Identifier: CA371732015

Gene: INTS8

Linked Data

• MyVariant Identifiers: chr8:g.95840020G>C (hg19) ; chr8:g.94827792G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827792G>C , CM000670.2:g.94827792G>C	GRCh38
NC_000008.10:g.95840020G>C , CM000670.1:g.95840020G>C	GRCh37
NC_000008.9:g.95909196G>C	NCBI36
NG_047163.1:g.19482G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.517G>C MANE Select	ENSP00000430338.1:p.Val173Leu
ENST00000343161.8:c.517G>C	ENSP00000343274.4:p.Val173Leu
ENST00000519053.5:c.190G>C	ENSP00000429056.1:p.Val64Leu
ENST00000519457.5:c.376G>C	ENSP00000428260.1:p.Val126Leu
ENST00000521860.5:c.479G>C
ENST00000522171.5:c.394G>C	ENSP00000429340.1:p.Val132Leu
ENST00000523206.5:c.517G>C	ENSP00000429452.1:p.Val173Leu
ENST00000523321.5:n.642G>C
ENST00000523731.5:c.517G>C	ENSP00000430338.1:p.Val173Leu
ENST00000524333.5:c.517G>C	ENSP00000427840.1:p.Val173Leu
NM_017864.3:c.517G>C	NP_060334.2:p.Val173Leu
NR_073444.1:n.659G>C
NR_073445.1:n.659G>C
XM_006716602.2:c.517G>C	XP_006716665.1:p.Val173Leu
XM_006716603.2:c.190G>C	XP_006716666.1:p.Val64Leu
XM_011517155.1:c.394G>C	XP_011515457.1:p.Val132Leu
XM_011517156.1:c.517G>C	XP_011515458.1:p.Val173Leu
XM_011517157.1:c.190G>C	XP_011515459.1:p.Val64Leu
XM_017013616.1:c.517G>C	XP_016869105.1:p.Val173Leu
XM_017013617.1:c.517G>C	XP_016869106.1:p.Val173Leu
XM_017013618.1:c.190G>C	XP_016869107.1:p.Val64Leu
XM_017013619.1:c.-767G>C	XP_016869108.1:n.-767G>C
NM_017864.4:c.517G>C MANE Select	NP_060334.2:p.Val173Leu
NR_073444.2:n.662G>C
NR_073445.2:n.662G>C