Canonical Allele Identifier: CA4076049

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158999701C>A , CM000668.2:g.158999701C>A	GRCh38
NC_000006.11:g.159420733C>A , CM000668.1:g.159420733C>A	GRCh37
NC_000006.10:g.159340721C>A	NCBI36
NG_051819.1:g.5487G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.-151G>T MANE Select	NP_114130.4:n.-151G>T
ENST00000367069.7:c.-151G>T MANE Select	ENSP00000356036.1:n.-151G>T
NM_001346418.1:c.276G>T	NP_001333347.1:p.Pro92=
NM_031924.4:c.276G>T	NP_114130.3:p.Pro92=
NM_031924.5:c.276G>T	NP_114130.3:p.Pro92=
NM_031924.6:c.276G>T	NP_114130.3:p.Pro92=
NR_144434.1:n.487G>T
ENST00000252655.1:c.276G>T	ENSP00000252655.1:p.Pro92=
ENST00000367069.6:c.-151G>T	ENSP00000356036.1:n.-151G>T
ENST00000449822.5:c.-151G>T	ENSP00000393195.1:n.-151G>T
XM_005267153.3:c.276G>T	XP_005267210.1:p.Pro92=
XM_017011347.2:c.-399G>T	XP_016866836.1:n.-399G>T
XM_024446566.1:c.-453G>T	XP_024302334.1:n.-453G>T
XR_001743668.2:n.726G>T
XR_001743669.2:n.726G>T
XR_001743670.2:n.726G>T
XR_001743671.2:n.74G>T
XR_245553.2:n.732G>T