Canonical Allele Identifier: CA2580075296

Gene: RSPH3

Linked Data

• ClinVar Variation Id: 2132046
• ClinVar RCV Id: RCV003062111

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982696A>T , CM000668.2:g.158982696A>T	GRCh38
NC_000006.11:g.159403728A>T , CM000668.1:g.159403728A>T	GRCh37
NC_000006.10:g.159323716A>T	NCBI36
NG_051819.1:g.22492T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.493-8T>A MANE Select	ENSP00000356036.1:n.493-8T>A
ENST00000252655.1:c.919-8T>A	ENSP00000252655.1:n.919-8T>A
ENST00000367069.6:c.493-8T>A	ENSP00000356036.1:n.493-8T>A
ENST00000449822.5:c.205-8T>A	ENSP00000393195.1:n.205-8T>A
NM_031924.4:c.919-8T>A	NP_114130.3:n.919-8T>A
XM_005267153.3:c.631-8T>A	XP_005267210.1:n.631-8T>A
XR_245553.2:n.1375-8T>A
NM_001346418.1:c.631-8T>A	NP_001333347.1:n.631-8T>A
NM_031924.5:c.919-8T>A	NP_114130.3:n.919-8T>A
NR_144434.1:n.1130-8T>A
XM_017011347.2:c.103-8T>A	XP_016866836.1:n.103-8T>A
XM_024446566.1:c.103-8T>A	XP_024302334.1:n.103-8T>A
XR_001743668.2:n.1369-8T>A
XR_001743669.2:n.1369-8T>A
XR_001743670.2:n.1081-8T>A
XR_001743671.2:n.575-8T>A
NM_031924.6:c.919-8T>A	NP_114130.3:n.919-8T>A
NM_031924.8:c.493-8T>A MANE Select	NP_114130.4:n.493-8T>A