Canonical Allele Identifier: CA4076093

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158999823C>A , CM000668.2:g.158999823C>A	GRCh38
NC_000006.11:g.159420855C>A , CM000668.1:g.159420855C>A	GRCh37
NC_000006.10:g.159340843C>A	NCBI36
NG_051819.1:g.5365G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.-273G>T MANE Select	NP_114130.4:n.-273G>T
ENST00000367069.7:c.-273G>T MANE Select	ENSP00000356036.1:n.-273G>T
NM_001346418.1:c.154G>T	NP_001333347.1:p.Glu52Ter
NM_031924.4:c.154G>T	NP_114130.3:p.Glu52Ter
NM_031924.5:c.154G>T	NP_114130.3:p.Glu52Ter
NM_031924.6:c.154G>T	NP_114130.3:p.Glu52Ter
NR_144434.1:n.365G>T
ENST00000252655.1:c.154G>T	ENSP00000252655.1:p.Glu52Ter
ENST00000367069.6:c.-273G>T	ENSP00000356036.1:n.-273G>T
XM_005267153.3:c.154G>T	XP_005267210.1:p.Glu52Ter
XR_001743668.2:n.604G>T
XR_001743669.2:n.604G>T
XR_001743670.2:n.604G>T
XR_245553.2:n.610G>T