Canonical Allele Identifier: CA2678895856

Gene: RSPH9 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43666304G>T , CM000668.2:g.43666304G>T	GRCh38
NC_000006.11:g.43634041G>T , CM000668.1:g.43634041G>T	GRCh37
NC_000006.10:g.43742019G>T	NCBI36
NG_023436.1:g.26275G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152732.5:c.671-4485G>T (RSPH9) MANE Select	NP_689945.2:n.671-4485G>T
ENST00000372163.5:c.671-4485G>T (RSPH9) MANE Select	ENSP00000361236.4:n.671-4485G>T
NM_001193341.1:c.626-120G>T (RSPH9)	NP_001180270.1:n.626-120G>T
NM_001193341.2:c.626-120G>T (RSPH9)	NP_001180270.1:n.626-120G>T
NM_001318876.2:c.945+137033G>T (POLR1C)	NP_001305805.1:n.945+137033G>T
NM_152732.4:c.671-4485G>T (RSPH9)	NP_689945.2:n.671-4485G>T
ENST00000372163.4:c.671-4485G>T (RSPH9)	ENSP00000361236.4:n.671-4485G>T
ENST00000372165.8:c.626-120G>T (RSPH9)	ENSP00000361238.4:n.626-120G>T
XM_005248901.2:c.671-120G>T (RSPH9)	XP_005248958.1:n.671-120G>T
XM_005248901.3:c.671-120G>T (RSPH9)	XP_005248958.1:n.671-120G>T
XR_002956268.1:n.664-120G>T (RSPH9)
XR_002956269.1:n.574-120G>T (RSPH9)
XR_926099.1:n.747-120G>T (RSPH9)
XR_926099.2:n.754-120G>T (RSPH9)