Canonical Allele Identifier: CA4075910

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158983780C>T , CM000668.2:g.158983780C>T	GRCh38
NC_000006.11:g.159404812C>T , CM000668.1:g.159404812C>T	GRCh37
NC_000006.10:g.159324800C>T	NCBI36
NG_051819.1:g.21408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.374G>A MANE Select	ENSP00000356036.1:p.Arg125His
ENST00000252655.1:c.800G>A	ENSP00000252655.1:p.Arg267His
ENST00000367069.6:c.374G>A	ENSP00000356036.1:p.Arg125His
ENST00000449822.5:c.205-1092G>A	ENSP00000393195.1:n.205-1092G>A
NM_031924.4:c.800G>A	NP_114130.3:p.Arg267His
XM_005267153.3:c.631-1092G>A	XP_005267210.1:n.631-1092G>A
XR_245553.2:n.1256G>A
NM_001346418.1:c.631-1092G>A	NP_001333347.1:n.631-1092G>A
NM_031924.5:c.800G>A	NP_114130.3:p.Arg267His
NR_144434.1:n.1011G>A
XM_017011347.2:c.-17G>A	XP_016866836.1:n.-17G>A
XM_024446566.1:c.-17G>A	XP_024302334.1:n.-17G>A
XR_001743668.2:n.1250G>A
XR_001743669.2:n.1250G>A
XR_001743670.2:n.1081-1092G>A
XR_001743671.2:n.456G>A
NM_031924.6:c.800G>A	NP_114130.3:p.Arg267His
NM_031924.8:c.374G>A MANE Select	NP_114130.4:p.Arg125His