Canonical Allele Identifier: CA4076132

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158999971C>T , CM000668.2:g.158999971C>T	GRCh38
NC_000006.11:g.159421003C>T , CM000668.1:g.159421003C>T	GRCh37
NC_000006.10:g.159340991C>T	NCBI36
NG_051819.1:g.5217G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.-421G>A MANE Select	NP_114130.4:n.-421G>A
ENST00000367069.7:c.-421G>A MANE Select	ENSP00000356036.1:n.-421G>A
NM_001346418.1:c.6G>A	NP_001333347.1:p.Thr2=
NM_031924.4:c.6G>A	NP_114130.3:p.Thr2=
NM_031924.5:c.6G>A	NP_114130.3:p.Thr2=
NM_031924.6:c.6G>A	NP_114130.3:p.Thr2=
NR_144434.1:n.217G>A
ENST00000252655.1:c.6G>A	ENSP00000252655.1:p.Thr2=
ENST00000367069.6:c.-421G>A	ENSP00000356036.1:n.-421G>A
XM_005267153.3:c.6G>A	XP_005267210.1:p.Thr2=
XR_001743668.2:n.456G>A
XR_001743669.2:n.456G>A
XR_001743670.2:n.456G>A
XR_245553.2:n.462G>A