Canonical Allele Identifier: CA4075979

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158993886T>C , CM000668.2:g.158993886T>C	GRCh38
NC_000006.11:g.159414918T>C , CM000668.1:g.159414918T>C	GRCh37
NC_000006.10:g.159334906T>C	NCBI36
NG_051819.1:g.11302A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.157A>G MANE Select	NP_114130.4:p.Arg53Gly
ENST00000367069.7:c.157A>G MANE Select	ENSP00000356036.1:p.Arg53Gly
NM_001346418.1:c.583A>G	NP_001333347.1:p.Arg195Gly
NM_031924.4:c.583A>G	NP_114130.3:p.Arg195Gly
NM_031924.5:c.583A>G	NP_114130.3:p.Arg195Gly
NM_031924.6:c.583A>G	NP_114130.3:p.Arg195Gly
NR_144434.1:n.794A>G
ENST00000252655.1:c.583A>G	ENSP00000252655.1:p.Arg195Gly
ENST00000367069.6:c.157A>G	ENSP00000356036.1:p.Arg53Gly
ENST00000449822.5:c.157A>G	ENSP00000393195.1:p.Arg53Gly
XM_005267153.3:c.583A>G	XP_005267210.1:p.Arg195Gly
XM_017011347.2:c.-92A>G	XP_016866836.1:n.-92A>G
XM_024446566.1:c.-187+5549A>G	XP_024302334.1:n.-187+5549A>G
XR_001743668.2:n.1033A>G
XR_001743669.2:n.1033A>G
XR_001743670.2:n.1033A>G
XR_001743671.2:n.381A>G
XR_245553.2:n.1039A>G