Canonical Allele Identifier: CA364286809
Community Standard Title: NM_152732.5(RSPH9):c.1A>G (p.Met1Val)
Gene: RSPH9 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43645099A>G , CM000668.2:g.43645099A>G GRCh38
NC_000006.11:g.43612836A>G , CM000668.1:g.43612836A>G GRCh37
NC_000006.10:g.43720814A>G NCBI36
NG_023436.1:g.5070A>G

Transcript Alleles

HGVS Amino-acid Change
NM_152732.5:c.1A>G (RSPH9) MANE Select NP_689945.2:p.Met1Val
ENST00000372163.5:c.1A>G (RSPH9) MANE Select ENSP00000361236.4:p.Met1Val
NM_001193341.1:c.1A>G (RSPH9) NP_001180270.1:p.Met1Val
NM_001193341.2:c.1A>G (RSPH9) NP_001180270.1:p.Met1Val
NM_001318876.2:c.945+115828A>G (POLR1C) NP_001305805.1:n.945+115828A>G
NM_152732.4:c.1A>G (RSPH9) NP_689945.2:p.Met1Val
ENST00000372163.4:c.1A>G (RSPH9) ENSP00000361236.4:p.Met1Val
ENST00000372165.8:c.1A>G (RSPH9) ENSP00000361238.4:p.Met1Val
XM_005248901.2:c.1A>G (RSPH9) XP_005248958.1:p.Met1Val
XM_005248901.3:c.1A>G (RSPH9) XP_005248958.1:p.Met1Val
XM_006715014.1:c.1A>G (RSPH9) XP_006715077.1:p.Met1Val
XM_011514356.1:c.1A>G (RSPH9) XP_011512658.1:p.Met1Val
XR_002956268.1:n.43A>G (RSPH9)
XR_002956269.1:n.70A>G (RSPH9)
XR_926099.1:n.36A>G (RSPH9)
XR_926099.2:n.43A>G (RSPH9)