Canonical Allele Identifier: CA462301525

Gene: INTS8

Linked Data

• gnomAD v4: 8-94827773-C-A
• MyVariant Identifiers: chr8:g.95840001C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827773C>A , CM000670.2:g.94827773C>A	GRCh38
NC_000008.10:g.95840001C>A , CM000670.1:g.95840001C>A	GRCh37
NC_000008.9:g.95909177C>A	NCBI36
NG_047163.1:g.19463C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.498C>A MANE Select	ENSP00000430338.1:p.Pro166=
ENST00000343161.8:c.498C>A	ENSP00000343274.4:p.Pro166=
ENST00000519053.5:c.171C>A	ENSP00000429056.1:p.Pro57=
ENST00000519457.5:c.357C>A	ENSP00000428260.1:p.Pro119=
ENST00000521860.5:c.460C>A
ENST00000522171.5:c.375C>A	ENSP00000429340.1:p.Pro125=
ENST00000523206.5:c.498C>A	ENSP00000429452.1:p.Pro166=
ENST00000523321.5:n.623C>A
ENST00000523731.5:c.498C>A	ENSP00000430338.1:p.Pro166=
ENST00000524333.5:c.498C>A	ENSP00000427840.1:p.Pro166=
NM_017864.3:c.498C>A	NP_060334.2:p.Pro166=
NR_073444.1:n.640C>A
NR_073445.1:n.640C>A
XM_006716602.2:c.498C>A	XP_006716665.1:p.Pro166=
XM_006716603.2:c.171C>A	XP_006716666.1:p.Pro57=
XM_011517155.1:c.375C>A	XP_011515457.1:p.Pro125=
XM_011517156.1:c.498C>A	XP_011515458.1:p.Pro166=
XM_011517157.1:c.171C>A	XP_011515459.1:p.Pro57=
XM_017013616.1:c.498C>A	XP_016869105.1:p.Pro166=
XM_017013617.1:c.498C>A	XP_016869106.1:p.Pro166=
XM_017013618.1:c.171C>A	XP_016869107.1:p.Pro57=
XM_017013619.1:c.-786C>A	XP_016869108.1:n.-786C>A
NM_017864.4:c.498C>A MANE Select	NP_060334.2:p.Pro166=
NR_073444.2:n.643C>A
NR_073445.2:n.643C>A