Canonical Allele Identifier: CA366282879

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158986418C>G , CM000668.2:g.158986418C>G	GRCh38
NC_000006.11:g.159407450C>G , CM000668.1:g.159407450C>G	GRCh37
NC_000006.10:g.159327438C>G	NCBI36
NG_051819.1:g.18770G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.208G>C MANE Select	NP_114130.4:p.Gly70Arg
ENST00000367069.7:c.208G>C MANE Select	ENSP00000356036.1:p.Gly70Arg
NM_001346418.1:c.631-3730G>C	NP_001333347.1:n.631-3730G>C
NM_031924.4:c.634G>C	NP_114130.3:p.Gly212Arg
NM_031924.5:c.634G>C	NP_114130.3:p.Gly212Arg
NM_031924.6:c.634G>C	NP_114130.3:p.Gly212Arg
NR_144434.1:n.845G>C
ENST00000252655.1:c.634G>C	ENSP00000252655.1:p.Gly212Arg
ENST00000367069.6:c.208G>C	ENSP00000356036.1:p.Gly70Arg
ENST00000449822.5:c.205-3730G>C	ENSP00000393195.1:n.205-3730G>C
XM_005267153.3:c.631-3730G>C	XP_005267210.1:n.631-3730G>C
XM_017011347.2:c.-44-2611G>C	XP_016866836.1:n.-44-2611G>C
XM_024446566.1:c.-183G>C	XP_024302334.1:n.-183G>C
XR_001743668.2:n.1084G>C
XR_001743669.2:n.1084G>C
XR_001743670.2:n.1081-3730G>C
XR_001743671.2:n.429-2611G>C
XR_245553.2:n.1090G>C