Canonical Allele Identifier: CA4075871

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982633G>A , CM000668.2:g.158982633G>A	GRCh38
NC_000006.11:g.159403665G>A , CM000668.1:g.159403665G>A	GRCh37
NC_000006.10:g.159323653G>A	NCBI36
NG_051819.1:g.22555C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.548C>T MANE Select	NP_114130.4:p.Thr183Ile
ENST00000367069.7:c.548C>T MANE Select	ENSP00000356036.1:p.Thr183Ile
NM_001346418.1:c.686C>T	NP_001333347.1:p.Thr229Ile
NM_031924.4:c.974C>T	NP_114130.3:p.Thr325Ile
NM_031924.5:c.974C>T	NP_114130.3:p.Thr325Ile
NM_031924.6:c.974C>T	NP_114130.3:p.Thr325Ile
NR_144434.1:n.1185C>T
ENST00000252655.1:c.974C>T	ENSP00000252655.1:p.Thr325Ile
ENST00000367069.6:c.548C>T	ENSP00000356036.1:p.Thr183Ile
ENST00000449822.5:c.260C>T	ENSP00000393195.1:p.Thr87Ile
XM_005267153.3:c.686C>T	XP_005267210.1:p.Thr229Ile
XM_017011347.2:c.158C>T	XP_016866836.1:p.Thr53Ile
XM_024446566.1:c.158C>T	XP_024302334.1:p.Thr53Ile
XR_001743668.2:n.1424C>T
XR_001743669.2:n.1424C>T
XR_001743670.2:n.1136C>T
XR_001743671.2:n.630C>T
XR_245553.2:n.1430C>T