Canonical Allele Identifier: CA366286072

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158999955C>T , CM000668.2:g.158999955C>T	GRCh38
NC_000006.11:g.159420987C>T , CM000668.1:g.159420987C>T	GRCh37
NC_000006.10:g.159340975C>T	NCBI36
NG_051819.1:g.5233G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.-405G>A MANE Select	NP_114130.4:n.-405G>A
ENST00000367069.7:c.-405G>A MANE Select	ENSP00000356036.1:n.-405G>A
NM_001346418.1:c.22G>A	NP_001333347.1:p.Ala8Thr
NM_031924.4:c.22G>A	NP_114130.3:p.Ala8Thr
NM_031924.5:c.22G>A	NP_114130.3:p.Ala8Thr
NM_031924.6:c.22G>A	NP_114130.3:p.Ala8Thr
NR_144434.1:n.233G>A
ENST00000252655.1:c.22G>A	ENSP00000252655.1:p.Ala8Thr
ENST00000367069.6:c.-405G>A	ENSP00000356036.1:n.-405G>A
XM_005267153.3:c.22G>A	XP_005267210.1:p.Ala8Thr
XR_001743668.2:n.472G>A
XR_001743669.2:n.472G>A
XR_001743670.2:n.472G>A
XR_245553.2:n.478G>A