Canonical Allele Identifier: CA4075797

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158980773C>A , CM000668.2:g.158980773C>A	GRCh38
NC_000006.11:g.159401805C>A , CM000668.1:g.159401805C>A	GRCh37
NC_000006.10:g.159321793C>A	NCBI36
NG_051819.1:g.24415G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.859+1G>T MANE Select	NP_114130.4:n.859+1G>T
ENST00000367069.7:c.859+1G>T MANE Select	ENSP00000356036.1:n.859+1G>T
NM_001346418.1:c.997+1G>T	NP_001333347.1:n.997+1G>T
NM_031924.4:c.1285+1G>T	NP_114130.3:n.1285+1G>T
NM_031924.5:c.1285+1G>T	NP_114130.3:n.1285+1G>T
NM_031924.6:c.1285+1G>T	NP_114130.3:n.1285+1G>T
NR_144434.1:n.1496+1G>T
ENST00000252655.1:c.1285+1G>T	ENSP00000252655.1:n.1285+1G>T
ENST00000367069.6:c.859+1G>T	ENSP00000356036.1:n.859+1G>T
ENST00000449822.5:c.571+1G>T	ENSP00000393195.1:n.571+1G>T
XM_005267153.3:c.997+1G>T	XP_005267210.1:n.997+1G>T
XM_017011347.2:c.469+1G>T	XP_016866836.1:n.469+1G>T
XM_024446566.1:c.469+1G>T	XP_024302334.1:n.469+1G>T
XR_001743668.2:n.1735+1G>T
XR_001743669.2:n.1735+1G>T
XR_001743670.2:n.1447+1G>T
XR_001743671.2:n.941+1G>T
XR_245553.2:n.1741+1G>T