Canonical Allele Identifier: CA204023

Gene: RSPH3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158980867G>A , CM000668.2:g.158980867G>A	GRCh38
NC_000006.11:g.159401899G>A , CM000668.1:g.159401899G>A	GRCh37
NC_000006.10:g.159321887G>A	NCBI36
NG_051819.1:g.24321C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.766C>T MANE Select	ENSP00000356036.1:p.Arg256Ter
ENST00000252655.1:c.1192C>T	ENSP00000252655.1:p.Arg398Ter
ENST00000367069.6:c.766C>T	ENSP00000356036.1:p.Arg256Ter
ENST00000449822.5:c.478C>T	ENSP00000393195.1:p.Arg160Ter
NM_031924.4:c.1192C>T	NP_114130.3:p.Arg398Ter
XM_005267153.3:c.904C>T	XP_005267210.1:p.Arg302Ter
XR_245553.2:n.1648C>T
NM_001346418.1:c.904C>T	NP_001333347.1:p.Arg302Ter
NM_031924.5:c.1192C>T	NP_114130.3:p.Arg398Ter
NR_144434.1:n.1403C>T
XM_017011347.2:c.376C>T	XP_016866836.1:p.Arg126Ter
XM_024446566.1:c.376C>T	XP_024302334.1:p.Arg126Ter
XR_001743668.2:n.1642C>T
XR_001743669.2:n.1642C>T
XR_001743670.2:n.1354C>T
XR_001743671.2:n.848C>T
NM_031924.6:c.1192C>T	NP_114130.3:p.Arg398Ter
NM_031924.8:c.766C>T MANE Select	NP_114130.4:p.Arg256Ter