Canonical Allele Identifier: CA4075898

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158983671T>C , CM000668.2:g.158983671T>C	GRCh38
NC_000006.11:g.159404703T>C , CM000668.1:g.159404703T>C	GRCh37
NC_000006.10:g.159324691T>C	NCBI36
NG_051819.1:g.21517A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.483A>G MANE Select	NP_114130.4:p.Leu161=
ENST00000367069.7:c.483A>G MANE Select	ENSP00000356036.1:p.Leu161=
NM_001346418.1:c.631-983A>G	NP_001333347.1:n.631-983A>G
NM_031924.4:c.909A>G	NP_114130.3:p.Leu303=
NM_031924.5:c.909A>G	NP_114130.3:p.Leu303=
NM_031924.6:c.909A>G	NP_114130.3:p.Leu303=
NR_144434.1:n.1120A>G
ENST00000252655.1:c.909A>G	ENSP00000252655.1:p.Leu303=
ENST00000367069.6:c.483A>G	ENSP00000356036.1:p.Leu161=
ENST00000449822.5:c.205-983A>G	ENSP00000393195.1:n.205-983A>G
XM_005267153.3:c.631-983A>G	XP_005267210.1:n.631-983A>G
XM_017011347.2:c.93A>G	XP_016866836.1:p.Leu31=
XM_024446566.1:c.93A>G	XP_024302334.1:p.Leu31=
XR_001743668.2:n.1359A>G
XR_001743669.2:n.1359A>G
XR_001743670.2:n.1081-983A>G
XR_001743671.2:n.565A>G
XR_245553.2:n.1365A>G