Canonical Allele Identifier: CA3828281

Gene: RSPH9 POLR1C

Linked Data

• dbSNP Id: rs763244385
• ExAC: 6:43618254 A / G
• gnomAD v2: 6-43618254-A-G
• MyVariant Identifiers: chr6:g.43618254A>G (hg19) ; chr6:g.43650517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43650517A>G , CM000668.2:g.43650517A>G	GRCh38
NC_000006.11:g.43618254A>G , CM000668.1:g.43618254A>G	GRCh37
NC_000006.10:g.43726232A>G	NCBI36
NG_023436.1:g.10488A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.370A>G (RSPH9) MANE Select	ENSP00000361236.4:p.Lys124Glu
ENST00000372163.4:c.370A>G (RSPH9)	ENSP00000361236.4:p.Lys124Glu
ENST00000372165.8:c.370A>G (RSPH9)	ENSP00000361238.4:p.Lys124Glu
NM_001193341.1:c.370A>G (RSPH9)	NP_001180270.1:p.Lys124Glu
NM_152732.4:c.370A>G (RSPH9)	NP_689945.2:p.Lys124Glu
XM_005248901.2:c.370A>G (RSPH9)	XP_005248958.1:p.Lys124Glu
XM_006715014.1:c.228-5045A>G (RSPH9)	XP_006715077.1:n.228-5045A>G
XM_011514356.1:c.370A>G (RSPH9)	XP_011512658.1:p.Lys124Glu
XR_926099.1:n.405A>G (RSPH9)
XM_005248901.3:c.370A>G (RSPH9)	XP_005248958.1:p.Lys124Glu
XR_002956268.1:n.412A>G (RSPH9)
XR_002956269.1:n.297-5045A>G (RSPH9)
XR_926099.2:n.412A>G (RSPH9)
NM_152732.5:c.370A>G (RSPH9) MANE Select	NP_689945.2:p.Lys124Glu
NM_001193341.2:c.370A>G (RSPH9)	NP_001180270.1:p.Lys124Glu
NM_001318876.2:c.945+121246A>G (POLR1C)	NP_001305805.1:n.945+121246A>G