Canonical Allele Identifier: CA452982312

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158977553C>T , CM000668.2:g.158977553C>T	GRCh38
NC_000006.11:g.159398585C>T , CM000668.1:g.159398585C>T	GRCh37
NC_000006.10:g.159318573C>T	NCBI36
NG_051819.1:g.27635G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.1242G>A MANE Select	NP_114130.4:p.Glu414=
ENST00000367069.7:c.1242G>A MANE Select	ENSP00000356036.1:p.Glu414=
NM_001346418.1:c.1380G>A	NP_001333347.1:p.Glu460=
NM_031924.4:c.1668G>A	NP_114130.3:p.Glu556=
NM_031924.5:c.1668G>A	NP_114130.3:p.Glu556=
NM_031924.6:c.1668G>A	NP_114130.3:p.Glu556=
NR_144434.1:n.1879G>A
ENST00000252655.1:c.1668G>A	ENSP00000252655.1:p.Glu556=
ENST00000367069.6:c.1242G>A	ENSP00000356036.1:p.Glu414=
ENST00000449822.5:c.954G>A	ENSP00000393195.1:p.Glu318=
XM_005267153.3:c.1380G>A	XP_005267210.1:p.Glu460=
XM_017011347.2:c.852G>A	XP_016866836.1:p.Glu284=
XM_024446566.1:c.852G>A	XP_024302334.1:p.Glu284=
XR_001743668.2:n.2118G>A
XR_001743669.2:n.2118G>A
XR_001743670.2:n.1830G>A
XR_001743671.2:n.1324G>A
XR_245553.2:n.2124G>A