Canonical Allele Identifier: CA2678896504

Gene: RSPH9 POLR1C

Linked Data

• gnomAD v4: 6-43650303-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43650303G>A , CM000668.2:g.43650303G>A	GRCh38
NC_000006.11:g.43618040G>A , CM000668.1:g.43618040G>A	GRCh37
NC_000006.10:g.43726018G>A	NCBI36
NG_023436.1:g.10274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.228-72G>A (RSPH9) MANE Select	ENSP00000361236.4:n.228-72G>A
ENST00000372163.4:c.228-72G>A (RSPH9)	ENSP00000361236.4:n.228-72G>A
ENST00000372165.8:c.228-72G>A (RSPH9)	ENSP00000361238.4:n.228-72G>A
NM_001193341.1:c.228-72G>A (RSPH9)	NP_001180270.1:n.228-72G>A
NM_152732.4:c.228-72G>A (RSPH9)	NP_689945.2:n.228-72G>A
XM_005248901.2:c.228-72G>A (RSPH9)	XP_005248958.1:n.228-72G>A
XM_006715014.1:c.227+4978G>A (RSPH9)	XP_006715077.1:n.227+4978G>A
XM_011514356.1:c.228-72G>A (RSPH9)	XP_011512658.1:n.228-72G>A
XR_926099.1:n.263-72G>A (RSPH9)
XM_005248901.3:c.228-72G>A (RSPH9)	XP_005248958.1:n.228-72G>A
XR_002956268.1:n.270-72G>A (RSPH9)
XR_002956269.1:n.296+4978G>A (RSPH9)
XR_926099.2:n.270-72G>A (RSPH9)
NM_152732.5:c.228-72G>A (RSPH9) MANE Select	NP_689945.2:n.228-72G>A
NM_001193341.2:c.228-72G>A (RSPH9)	NP_001180270.1:n.228-72G>A
NM_001318876.2:c.945+121032G>A (POLR1C)	NP_001305805.1:n.945+121032G>A