Canonical Allele Identifier: CA4075976

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158993874G>A , CM000668.2:g.158993874G>A	GRCh38
NC_000006.11:g.159414906G>A , CM000668.1:g.159414906G>A	GRCh37
NC_000006.10:g.159334894G>A	NCBI36
NG_051819.1:g.11314C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.169C>T MANE Select	NP_114130.4:p.Arg57Ter
ENST00000367069.7:c.169C>T MANE Select	ENSP00000356036.1:p.Arg57Ter
NM_001346418.1:c.595C>T	NP_001333347.1:p.Arg199Ter
NM_031924.4:c.595C>T	NP_114130.3:p.Arg199Ter
NM_031924.5:c.595C>T	NP_114130.3:p.Arg199Ter
NM_031924.6:c.595C>T	NP_114130.3:p.Arg199Ter
NR_144434.1:n.806C>T
ENST00000252655.1:c.595C>T	ENSP00000252655.1:p.Arg199Ter
ENST00000367069.6:c.169C>T	ENSP00000356036.1:p.Arg57Ter
ENST00000449822.5:c.169C>T	ENSP00000393195.1:p.Arg57Ter
XM_005267153.3:c.595C>T	XP_005267210.1:p.Arg199Ter
XM_017011347.2:c.-80C>T	XP_016866836.1:n.-80C>T
XM_024446566.1:c.-187+5561C>T	XP_024302334.1:n.-187+5561C>T
XR_001743668.2:n.1045C>T
XR_001743669.2:n.1045C>T
XR_001743670.2:n.1045C>T
XR_001743671.2:n.393C>T
XR_245553.2:n.1051C>T