Canonical Allele Identifier: CA371731982

Gene: INTS8

Linked Data

• MyVariant Identifiers: chr8:g.95840006C>A (hg19) ; chr8:g.94827778C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827778C>A , CM000670.2:g.94827778C>A	GRCh38
NC_000008.10:g.95840006C>A , CM000670.1:g.95840006C>A	GRCh37
NC_000008.9:g.95909182C>A	NCBI36
NG_047163.1:g.19468C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.503C>A MANE Select	ENSP00000430338.1:p.Pro168His
ENST00000343161.8:c.503C>A	ENSP00000343274.4:p.Pro168His
ENST00000519053.5:c.176C>A	ENSP00000429056.1:p.Pro59His
ENST00000519457.5:c.362C>A	ENSP00000428260.1:p.Pro121His
ENST00000521860.5:c.465C>A
ENST00000522171.5:c.380C>A	ENSP00000429340.1:p.Pro127His
ENST00000523206.5:c.503C>A	ENSP00000429452.1:p.Pro168His
ENST00000523321.5:n.628C>A
ENST00000523731.5:c.503C>A	ENSP00000430338.1:p.Pro168His
ENST00000524333.5:c.503C>A	ENSP00000427840.1:p.Pro168His
NM_017864.3:c.503C>A	NP_060334.2:p.Pro168His
NR_073444.1:n.645C>A
NR_073445.1:n.645C>A
XM_006716602.2:c.503C>A	XP_006716665.1:p.Pro168His
XM_006716603.2:c.176C>A	XP_006716666.1:p.Pro59His
XM_011517155.1:c.380C>A	XP_011515457.1:p.Pro127His
XM_011517156.1:c.503C>A	XP_011515458.1:p.Pro168His
XM_011517157.1:c.176C>A	XP_011515459.1:p.Pro59His
XM_017013616.1:c.503C>A	XP_016869105.1:p.Pro168His
XM_017013617.1:c.503C>A	XP_016869106.1:p.Pro168His
XM_017013618.1:c.176C>A	XP_016869107.1:p.Pro59His
XM_017013619.1:c.-781C>A	XP_016869108.1:n.-781C>A
NM_017864.4:c.503C>A MANE Select	NP_060334.2:p.Pro168His
NR_073444.2:n.648C>A
NR_073445.2:n.648C>A