Canonical Allele Identifier: CA138333339

Gene: RSPH9 POLR1C

Linked Data

• ClinVar Variation Id: 834954
• ClinVar RCV Id: RCV001035744
• dbSNP Id: rs935743330
• MyVariant Identifiers: chr6:g.43618273T>C (hg19) ; chr6:g.43650536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43650536T>C , CM000668.2:g.43650536T>C	GRCh38
NC_000006.11:g.43618273T>C , CM000668.1:g.43618273T>C	GRCh37
NC_000006.10:g.43726251T>C	NCBI36
NG_023436.1:g.10507T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.389T>C (RSPH9) MANE Select	ENSP00000361236.4:p.Ile130Thr
ENST00000372163.4:c.389T>C (RSPH9)	ENSP00000361236.4:p.Ile130Thr
ENST00000372165.8:c.389T>C (RSPH9)	ENSP00000361238.4:p.Ile130Thr
NM_001193341.1:c.389T>C (RSPH9)	NP_001180270.1:p.Ile130Thr
NM_152732.4:c.389T>C (RSPH9)	NP_689945.2:p.Ile130Thr
XM_005248901.2:c.389T>C (RSPH9)	XP_005248958.1:p.Ile130Thr
XM_006715014.1:c.228-5026T>C (RSPH9)	XP_006715077.1:n.228-5026T>C
XM_011514356.1:c.389T>C (RSPH9)	XP_011512658.1:p.Ile130Thr
XR_926099.1:n.424T>C (RSPH9)
XM_005248901.3:c.389T>C (RSPH9)	XP_005248958.1:p.Ile130Thr
XR_002956268.1:n.431T>C (RSPH9)
XR_002956269.1:n.297-5026T>C (RSPH9)
XR_926099.2:n.431T>C (RSPH9)
NM_152732.5:c.389T>C (RSPH9) MANE Select	NP_689945.2:p.Ile130Thr
NM_001193341.2:c.389T>C (RSPH9)	NP_001180270.1:p.Ile130Thr
NM_001318876.2:c.945+121265T>C (POLR1C)	NP_001305805.1:n.945+121265T>C