Canonical Allele Identifier: CA4075975

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158993873C>T , CM000668.2:g.158993873C>T	GRCh38
NC_000006.11:g.159414905C>T , CM000668.1:g.159414905C>T	GRCh37
NC_000006.10:g.159334893C>T	NCBI36
NG_051819.1:g.11315G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.170G>A MANE Select	NP_114130.4:p.Arg57Gln
ENST00000367069.7:c.170G>A MANE Select	ENSP00000356036.1:p.Arg57Gln
NM_001346418.1:c.596G>A	NP_001333347.1:p.Arg199Gln
NM_031924.4:c.596G>A	NP_114130.3:p.Arg199Gln
NM_031924.5:c.596G>A	NP_114130.3:p.Arg199Gln
NM_031924.6:c.596G>A	NP_114130.3:p.Arg199Gln
NR_144434.1:n.807G>A
ENST00000252655.1:c.596G>A	ENSP00000252655.1:p.Arg199Gln
ENST00000367069.6:c.170G>A	ENSP00000356036.1:p.Arg57Gln
ENST00000449822.5:c.170G>A	ENSP00000393195.1:p.Arg57Gln
XM_005267153.3:c.596G>A	XP_005267210.1:p.Arg199Gln
XM_017011347.2:c.-79G>A	XP_016866836.1:n.-79G>A
XM_024446566.1:c.-187+5562G>A	XP_024302334.1:n.-187+5562G>A
XR_001743668.2:n.1046G>A
XR_001743669.2:n.1046G>A
XR_001743670.2:n.1046G>A
XR_001743671.2:n.394G>A
XR_245553.2:n.1052G>A