Canonical Allele Identifier: CA3828274
Gene: RSPH9 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs774004334
gnomAD v2: 6-43618188-C-T
gnomAD v3: 6-43650451-C-T
gnomAD v4: 6-43650451-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43650451C>T , CM000668.2:g.43650451C>T GRCh38
NC_000006.11:g.43618188C>T , CM000668.1:g.43618188C>T GRCh37
NC_000006.10:g.43726166C>T NCBI36
NG_023436.1:g.10422C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372163.5:c.304C>T (RSPH9) MANE Select ENSP00000361236.4:p.Arg102Cys
ENST00000372163.4:c.304C>T (RSPH9) ENSP00000361236.4:p.Arg102Cys
ENST00000372165.8:c.304C>T (RSPH9) ENSP00000361238.4:p.Arg102Cys
NM_001193341.1:c.304C>T (RSPH9) NP_001180270.1:p.Arg102Cys
NM_152732.4:c.304C>T (RSPH9) NP_689945.2:p.Arg102Cys
XM_005248901.2:c.304C>T (RSPH9) XP_005248958.1:p.Arg102Cys
XM_006715014.1:c.228-5111C>T (RSPH9) XP_006715077.1:n.228-5111C>T
XM_011514356.1:c.304C>T (RSPH9) XP_011512658.1:p.Arg102Cys
XR_926099.1:n.339C>T (RSPH9)
XM_005248901.3:c.304C>T (RSPH9) XP_005248958.1:p.Arg102Cys
XR_002956268.1:n.346C>T (RSPH9)
XR_002956269.1:n.297-5111C>T (RSPH9)
XR_926099.2:n.346C>T (RSPH9)
NM_152732.5:c.304C>T (RSPH9) MANE Select NP_689945.2:p.Arg102Cys
NM_001193341.2:c.304C>T (RSPH9) NP_001180270.1:p.Arg102Cys
NM_001318876.2:c.945+121180C>T (POLR1C) NP_001305805.1:n.945+121180C>T