Canonical Allele Identifier: CA3828273
Gene: RSPH9 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs768448558
gnomAD v2: 6-43618177-T-C
gnomAD v4: 6-43650440-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43650440T>C , CM000668.2:g.43650440T>C GRCh38
NC_000006.11:g.43618177T>C , CM000668.1:g.43618177T>C GRCh37
NC_000006.10:g.43726155T>C NCBI36
NG_023436.1:g.10411T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372163.5:c.293T>C (RSPH9) MANE Select ENSP00000361236.4:p.Val98Ala
ENST00000372163.4:c.293T>C (RSPH9) ENSP00000361236.4:p.Val98Ala
ENST00000372165.8:c.293T>C (RSPH9) ENSP00000361238.4:p.Val98Ala
NM_001193341.1:c.293T>C (RSPH9) NP_001180270.1:p.Val98Ala
NM_152732.4:c.293T>C (RSPH9) NP_689945.2:p.Val98Ala
XM_005248901.2:c.293T>C (RSPH9) XP_005248958.1:p.Val98Ala
XM_006715014.1:c.227+5115T>C (RSPH9) XP_006715077.1:n.227+5115T>C
XM_011514356.1:c.293T>C (RSPH9) XP_011512658.1:p.Val98Ala
XR_926099.1:n.328T>C (RSPH9)
XM_005248901.3:c.293T>C (RSPH9) XP_005248958.1:p.Val98Ala
XR_002956268.1:n.335T>C (RSPH9)
XR_002956269.1:n.296+5115T>C (RSPH9)
XR_926099.2:n.335T>C (RSPH9)
NM_152732.5:c.293T>C (RSPH9) MANE Select NP_689945.2:p.Val98Ala
NM_001193341.2:c.293T>C (RSPH9) NP_001180270.1:p.Val98Ala
NM_001318876.2:c.945+121169T>C (POLR1C) NP_001305805.1:n.945+121169T>C