Canonical Allele Identifier: CA364288606

Gene: RSPH9 POLR1C

Linked Data

• dbSNP Id: rs1370712926
• gnomAD v3: 6-43650455-T-C
• gnomAD v4: 6-43650455-T-C
• MyVariant Identifiers: chr6:g.43618192T>C (hg19) ; chr6:g.43650455T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43650455T>C , CM000668.2:g.43650455T>C	GRCh38
NC_000006.11:g.43618192T>C , CM000668.1:g.43618192T>C	GRCh37
NC_000006.10:g.43726170T>C	NCBI36
NG_023436.1:g.10426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.308T>C (RSPH9) MANE Select	ENSP00000361236.4:p.Phe103Ser
ENST00000372163.4:c.308T>C (RSPH9)	ENSP00000361236.4:p.Phe103Ser
ENST00000372165.8:c.308T>C (RSPH9)	ENSP00000361238.4:p.Phe103Ser
NM_001193341.1:c.308T>C (RSPH9)	NP_001180270.1:p.Phe103Ser
NM_152732.4:c.308T>C (RSPH9)	NP_689945.2:p.Phe103Ser
XM_005248901.2:c.308T>C (RSPH9)	XP_005248958.1:p.Phe103Ser
XM_006715014.1:c.228-5107T>C (RSPH9)	XP_006715077.1:n.228-5107T>C
XM_011514356.1:c.308T>C (RSPH9)	XP_011512658.1:p.Phe103Ser
XR_926099.1:n.343T>C (RSPH9)
XM_005248901.3:c.308T>C (RSPH9)	XP_005248958.1:p.Phe103Ser
XR_002956268.1:n.350T>C (RSPH9)
XR_002956269.1:n.297-5107T>C (RSPH9)
XR_926099.2:n.350T>C (RSPH9)
NM_152732.5:c.308T>C (RSPH9) MANE Select	NP_689945.2:p.Phe103Ser
NM_001193341.2:c.308T>C (RSPH9)	NP_001180270.1:p.Phe103Ser
NM_001318876.2:c.945+121184T>C (POLR1C)	NP_001305805.1:n.945+121184T>C