Canonical Allele Identifier: CA366285762

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158999843G>C , CM000668.2:g.158999843G>C	GRCh38
NC_000006.11:g.159420875G>C , CM000668.1:g.159420875G>C	GRCh37
NC_000006.10:g.159340863G>C	NCBI36
NG_051819.1:g.5345C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.-293C>G MANE Select	NP_114130.4:n.-293C>G
ENST00000367069.7:c.-293C>G MANE Select	ENSP00000356036.1:n.-293C>G
NM_001346418.1:c.134C>G	NP_001333347.1:p.Pro45Arg
NM_031924.4:c.134C>G	NP_114130.3:p.Pro45Arg
NM_031924.5:c.134C>G	NP_114130.3:p.Pro45Arg
NM_031924.6:c.134C>G	NP_114130.3:p.Pro45Arg
NR_144434.1:n.345C>G
ENST00000252655.1:c.134C>G	ENSP00000252655.1:p.Pro45Arg
ENST00000367069.6:c.-293C>G	ENSP00000356036.1:n.-293C>G
XM_005267153.3:c.134C>G	XP_005267210.1:p.Pro45Arg
XR_001743668.2:n.584C>G
XR_001743669.2:n.584C>G
XR_001743670.2:n.584C>G
XR_245553.2:n.590C>G