Canonical Allele Identifier: CA4696687

Gene: INTS9

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28775787C>T , CM000670.2:g.28775787C>T	GRCh38
NC_000008.10:g.28633304C>T , CM000670.1:g.28633304C>T	GRCh37
NC_000008.9:g.28689223C>T	NCBI36
NG_016981.1:g.119395G>A
NG_016981.2:g.119395G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018250.4:c.1535G>A MANE Select	NP_060720.2:p.Arg512Gln
ENST00000521022.6:c.1535G>A MANE Select	ENSP00000429065.1:p.Arg512Gln
NM_001145159.2:c.1472G>A	NP_001138631.1:p.Arg491Gln
NM_001145159.3:c.1472G>A	NP_001138631.1:p.Arg491Gln
NM_001172562.1:c.1463G>A	NP_001166033.1:p.Arg488Gln
NM_001172562.2:c.1463G>A	NP_001166033.1:p.Arg488Gln
NM_001363038.1:c.1535G>A	NP_001349967.1:p.Arg512Gln
NM_001363038.2:c.1535G>A	NP_001349967.1:p.Arg512Gln
NM_018250.3:c.1535G>A	NP_060720.2:p.Arg512Gln
NR_026826.2:n.1643G>A
NR_026826.3:n.1431G>A
ENST00000416984.6:c.1472G>A	ENSP00000398208.2:p.Arg491Gln
ENST00000519578.1:n.313G>A
ENST00000520005.1:n.485G>A
ENST00000520316.5:n.139G>A
ENST00000521022.5:c.1535G>A	ENSP00000429065.1:p.Arg512Gln
ENST00000521777.5:c.1463G>A	ENSP00000430943.1:p.Arg488Gln
ENST00000522363.5:c.*1227G>A	ENSP00000430083.1:n.*1227G>A
ENST00000523303.5:c.1535G>A	ENSP00000427952.1:p.Arg512Gln
XM_006716356.2:c.1535G>A	XP_006716419.1:p.Arg512Gln
XM_006716357.2:c.1535G>A	XP_006716420.1:p.Arg512Gln
XM_006716357.4:c.1535G>A	XP_006716420.1:p.Arg512Gln
XM_011544573.1:c.1472G>A	XP_011542875.1:p.Arg491Gln
XM_011544574.1:c.1463G>A	XP_011542876.1:p.Arg488Gln
XM_011544575.1:c.1463G>A	XP_011542877.1:p.Arg488Gln
XM_011544575.2:c.1463G>A	XP_011542877.1:p.Arg488Gln
XM_011544576.1:c.1400G>A	XP_011542878.1:p.Arg467Gln
XM_011544576.2:c.1400G>A	XP_011542878.1:p.Arg467Gln