Canonical Allele Identifier: CA366282629

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158986346G>A , CM000668.2:g.158986346G>A	GRCh38
NC_000006.11:g.159407378G>A , CM000668.1:g.159407378G>A	GRCh37
NC_000006.10:g.159327366G>A	NCBI36
NG_051819.1:g.18842C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.280C>T MANE Select	NP_114130.4:p.Gln94Ter
ENST00000367069.7:c.280C>T MANE Select	ENSP00000356036.1:p.Gln94Ter
NM_001346418.1:c.631-3658C>T	NP_001333347.1:n.631-3658C>T
NM_031924.4:c.706C>T	NP_114130.3:p.Gln236Ter
NM_031924.5:c.706C>T	NP_114130.3:p.Gln236Ter
NM_031924.6:c.706C>T	NP_114130.3:p.Gln236Ter
NR_144434.1:n.917C>T
ENST00000252655.1:c.706C>T	ENSP00000252655.1:p.Gln236Ter
ENST00000367069.6:c.280C>T	ENSP00000356036.1:p.Gln94Ter
ENST00000449822.5:c.205-3658C>T	ENSP00000393195.1:n.205-3658C>T
XM_005267153.3:c.631-3658C>T	XP_005267210.1:n.631-3658C>T
XM_017011347.2:c.-44-2539C>T	XP_016866836.1:n.-44-2539C>T
XM_024446566.1:c.-111C>T	XP_024302334.1:n.-111C>T
XR_001743668.2:n.1156C>T
XR_001743669.2:n.1156C>T
XR_001743670.2:n.1081-3658C>T
XR_001743671.2:n.429-2539C>T
XR_245553.2:n.1162C>T