Canonical Allele Identifier: CA2578784844

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158986263A>G , CM000668.2:g.158986263A>G	GRCh38
NC_000006.11:g.159407295A>G , CM000668.1:g.159407295A>G	GRCh37
NC_000006.10:g.159327283A>G	NCBI36
NG_051819.1:g.18925T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.346+17T>C MANE Select	NP_114130.4:n.346+17T>C
ENST00000367069.7:c.346+17T>C MANE Select	ENSP00000356036.1:n.346+17T>C
NM_001346418.1:c.631-3575T>C	NP_001333347.1:n.631-3575T>C
NM_031924.4:c.772+17T>C	NP_114130.3:n.772+17T>C
NM_031924.5:c.772+17T>C	NP_114130.3:n.772+17T>C
NM_031924.6:c.772+17T>C	NP_114130.3:n.772+17T>C
NR_144434.1:n.983+17T>C
ENST00000252655.1:c.772+17T>C	ENSP00000252655.1:n.772+17T>C
ENST00000367069.6:c.346+17T>C	ENSP00000356036.1:n.346+17T>C
ENST00000449822.5:c.205-3575T>C	ENSP00000393195.1:n.205-3575T>C
XM_005267153.3:c.631-3575T>C	XP_005267210.1:n.631-3575T>C
XM_017011347.2:c.-44-2456T>C	XP_016866836.1:n.-44-2456T>C
XM_024446566.1:c.-45+17T>C	XP_024302334.1:n.-45+17T>C
XR_001743668.2:n.1222+17T>C
XR_001743669.2:n.1222+17T>C
XR_001743670.2:n.1081-3575T>C
XR_001743671.2:n.429-2456T>C
XR_245553.2:n.1228+17T>C