Canonical Allele Identifier: CA138333287
Gene: RSPH9 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs944591850

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43650493C>T , CM000668.2:g.43650493C>T GRCh38
NC_000006.11:g.43618230C>T , CM000668.1:g.43618230C>T GRCh37
NC_000006.10:g.43726208C>T NCBI36
NG_023436.1:g.10464C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372163.5:c.346C>T (RSPH9) MANE Select ENSP00000361236.4:p.Leu116=
ENST00000372163.4:c.346C>T (RSPH9) ENSP00000361236.4:p.Leu116=
ENST00000372165.8:c.346C>T (RSPH9) ENSP00000361238.4:p.Leu116=
NM_001193341.1:c.346C>T (RSPH9) NP_001180270.1:p.Leu116=
NM_152732.4:c.346C>T (RSPH9) NP_689945.2:p.Leu116=
XM_005248901.2:c.346C>T (RSPH9) XP_005248958.1:p.Leu116=
XM_006715014.1:c.228-5069C>T (RSPH9) XP_006715077.1:n.228-5069C>T
XM_011514356.1:c.346C>T (RSPH9) XP_011512658.1:p.Leu116=
XR_926099.1:n.381C>T (RSPH9)
XM_005248901.3:c.346C>T (RSPH9) XP_005248958.1:p.Leu116=
XR_002956268.1:n.388C>T (RSPH9)
XR_002956269.1:n.297-5069C>T (RSPH9)
XR_926099.2:n.388C>T (RSPH9)
NM_152732.5:c.346C>T (RSPH9) MANE Select NP_689945.2:p.Leu116=
NM_001193341.2:c.346C>T (RSPH9) NP_001180270.1:p.Leu116=
NM_001318876.2:c.945+121222C>T (POLR1C) NP_001305805.1:n.945+121222C>T