Canonical Allele Identifier: CA4075743

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158977803T>C , CM000668.2:g.158977803T>C	GRCh38
NC_000006.11:g.159398835T>C , CM000668.1:g.159398835T>C	GRCh37
NC_000006.10:g.159318823T>C	NCBI36
NG_051819.1:g.27385A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.992A>G MANE Select	NP_114130.4:p.His331Arg
ENST00000367069.7:c.992A>G MANE Select	ENSP00000356036.1:p.His331Arg
NM_001346418.1:c.1130A>G	NP_001333347.1:p.His377Arg
NM_031924.4:c.1418A>G	NP_114130.3:p.His473Arg
NM_031924.5:c.1418A>G	NP_114130.3:p.His473Arg
NM_031924.6:c.1418A>G	NP_114130.3:p.His473Arg
NR_144434.1:n.1629A>G
ENST00000252655.1:c.1418A>G	ENSP00000252655.1:p.His473Arg
ENST00000367069.6:c.992A>G	ENSP00000356036.1:p.His331Arg
ENST00000449822.5:c.704A>G	ENSP00000393195.1:p.His235Arg
XM_005267153.3:c.1130A>G	XP_005267210.1:p.His377Arg
XM_017011347.2:c.602A>G	XP_016866836.1:p.His201Arg
XM_024446566.1:c.602A>G	XP_024302334.1:p.His201Arg
XR_001743668.2:n.1868A>G
XR_001743669.2:n.1868A>G
XR_001743670.2:n.1580A>G
XR_001743671.2:n.1074A>G
XR_245553.2:n.1874A>G