Canonical Allele Identifier: CA4075851

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982522C>T , CM000668.2:g.158982522C>T	GRCh38
NC_000006.11:g.159403554C>T , CM000668.1:g.159403554C>T	GRCh37
NC_000006.10:g.159323542C>T	NCBI36
NG_051819.1:g.22666G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.659G>A MANE Select	NP_114130.4:p.Arg220Gln
ENST00000367069.7:c.659G>A MANE Select	ENSP00000356036.1:p.Arg220Gln
NM_001346418.1:c.797G>A	NP_001333347.1:p.Arg266Gln
NM_031924.4:c.1085G>A	NP_114130.3:p.Arg362Gln
NM_031924.5:c.1085G>A	NP_114130.3:p.Arg362Gln
NM_031924.6:c.1085G>A	NP_114130.3:p.Arg362Gln
NR_144434.1:n.1296G>A
ENST00000252655.1:c.1085G>A	ENSP00000252655.1:p.Arg362Gln
ENST00000367069.6:c.659G>A	ENSP00000356036.1:p.Arg220Gln
ENST00000449822.5:c.371G>A	ENSP00000393195.1:p.Arg124Gln
XM_005267153.3:c.797G>A	XP_005267210.1:p.Arg266Gln
XM_017011347.2:c.269G>A	XP_016866836.1:p.Arg90Gln
XM_024446566.1:c.269G>A	XP_024302334.1:p.Arg90Gln
XR_001743668.2:n.1535G>A
XR_001743669.2:n.1535G>A
XR_001743670.2:n.1247G>A
XR_001743671.2:n.741G>A
XR_245553.2:n.1541G>A