Canonical Allele Identifier: CA16605540
Gene: RSPH9 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

ClinVar Variation Id: 379253
ClinVar RCV Id: RCV000431583
dbSNP Id: rs1057520543

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43650480T>G , CM000668.2:g.43650480T>G GRCh38
NC_000006.11:g.43618217T>G , CM000668.1:g.43618217T>G GRCh37
NC_000006.10:g.43726195T>G NCBI36
NG_023436.1:g.10451T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372163.5:c.333T>G (RSPH9) MANE Select ENSP00000361236.4:p.Tyr111Ter
ENST00000372163.4:c.333T>G (RSPH9) ENSP00000361236.4:p.Tyr111Ter
ENST00000372165.8:c.333T>G (RSPH9) ENSP00000361238.4:p.Tyr111Ter
NM_001193341.1:c.333T>G (RSPH9) NP_001180270.1:p.Tyr111Ter
NM_152732.4:c.333T>G (RSPH9) NP_689945.2:p.Tyr111Ter
XM_005248901.2:c.333T>G (RSPH9) XP_005248958.1:p.Tyr111Ter
XM_006715014.1:c.228-5082T>G (RSPH9) XP_006715077.1:n.228-5082T>G
XM_011514356.1:c.333T>G (RSPH9) XP_011512658.1:p.Tyr111Ter
XR_926099.1:n.368T>G (RSPH9)
XM_005248901.3:c.333T>G (RSPH9) XP_005248958.1:p.Tyr111Ter
XR_002956268.1:n.375T>G (RSPH9)
XR_002956269.1:n.297-5082T>G (RSPH9)
XR_926099.2:n.375T>G (RSPH9)
NM_152732.5:c.333T>G (RSPH9) MANE Select NP_689945.2:p.Tyr111Ter
NM_001193341.2:c.333T>G (RSPH9) NP_001180270.1:p.Tyr111Ter
NM_001318876.2:c.945+121209T>G (POLR1C) NP_001305805.1:n.945+121209T>G