Canonical Allele Identifier: CA3828276

Gene: RSPH9 POLR1C

Linked Data

• ClinVar Variation Id: 262685
• ClinVar RCV Id: RCV000243322 ; RCV001495670
• dbSNP Id: rs140285713
• ExAC: 6:43618211 C / T
• gnomAD v2: 6-43618211-C-T
• gnomAD v3: 6-43650474-C-T
• gnomAD v4: 6-43650474-C-T
• MyVariant Identifiers: chr6:g.43618211C>T (hg19) ; chr6:g.43650474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43650474C>T , CM000668.2:g.43650474C>T	GRCh38
NC_000006.11:g.43618211C>T , CM000668.1:g.43618211C>T	GRCh37
NC_000006.10:g.43726189C>T	NCBI36
NG_023436.1:g.10445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.327C>T (RSPH9) MANE Select	ENSP00000361236.4:p.Tyr109=
ENST00000372163.4:c.327C>T (RSPH9)	ENSP00000361236.4:p.Tyr109=
ENST00000372165.8:c.327C>T (RSPH9)	ENSP00000361238.4:p.Tyr109=
NM_001193341.1:c.327C>T (RSPH9)	NP_001180270.1:p.Tyr109=
NM_152732.4:c.327C>T (RSPH9)	NP_689945.2:p.Tyr109=
XM_005248901.2:c.327C>T (RSPH9)	XP_005248958.1:p.Tyr109=
XM_006715014.1:c.228-5088C>T (RSPH9)	XP_006715077.1:n.228-5088C>T
XM_011514356.1:c.327C>T (RSPH9)	XP_011512658.1:p.Tyr109=
XR_926099.1:n.362C>T (RSPH9)
XM_005248901.3:c.327C>T (RSPH9)	XP_005248958.1:p.Tyr109=
XR_002956268.1:n.369C>T (RSPH9)
XR_002956269.1:n.297-5088C>T (RSPH9)
XR_926099.2:n.369C>T (RSPH9)
NM_152732.5:c.327C>T (RSPH9) MANE Select	NP_689945.2:p.Tyr109=
NM_001193341.2:c.327C>T (RSPH9)	NP_001180270.1:p.Tyr109=
NM_001318876.2:c.945+121203C>T (POLR1C)	NP_001305805.1:n.945+121203C>T