Canonical Allele Identifier: CA177733

Gene: RSPH9 POLR1C

Linked Data

• ClinVar Variation Id: 165063
• ClinVar RCV Id: RCV000151749 ; RCV000464108 ; RCV001165017
• dbSNP Id: rs2295947
• ExAC: 6:43623326 G / A
• gnomAD v2: 6-43623326-G-A
• gnomAD v3: 6-43655589-G-A
• gnomAD v4: 6-43655589-G-A
• MyVariant Identifiers: chr6:g.43623326G>A (hg19) ; chr6:g.43655589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43655589G>A , CM000668.2:g.43655589G>A	GRCh38
NC_000006.11:g.43623326G>A , CM000668.1:g.43623326G>A	GRCh37
NC_000006.10:g.43731304G>A	NCBI36
NG_023436.1:g.15560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.421G>A (RSPH9) MANE Select	ENSP00000361236.4:p.Val141Met
ENST00000372163.4:c.421G>A (RSPH9)	ENSP00000361236.4:p.Val141Met
ENST00000372165.8:c.394-18G>A (RSPH9)	ENSP00000361238.4:n.394-18G>A
NM_001193341.1:c.394-18G>A (RSPH9)	NP_001180270.1:n.394-18G>A
NM_152732.4:c.421G>A (RSPH9)	NP_689945.2:p.Val141Met
XM_005248901.2:c.421G>A (RSPH9)	XP_005248958.1:p.Val141Met
XM_006715014.1:c.255G>A (RSPH9)	XP_006715077.1:p.Trp85Ter
XM_011514356.1:c.421G>A (RSPH9)	XP_011512658.1:p.Val141Met
XR_926099.1:n.456G>A (RSPH9)
XM_005248901.3:c.421G>A (RSPH9)	XP_005248958.1:p.Val141Met
XR_002956268.1:n.463G>A (RSPH9)
XR_002956269.1:n.324G>A (RSPH9)
XR_926099.2:n.463G>A (RSPH9)
NM_152732.5:c.421G>A (RSPH9) MANE Select	NP_689945.2:p.Val141Met
NM_001193341.2:c.394-18G>A (RSPH9)	NP_001180270.1:n.394-18G>A
NM_001318876.2:c.945+126318G>A (POLR1C)	NP_001305805.1:n.945+126318G>A