Canonical Allele Identifier: CA204021

Gene: RSPH3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158993853G>A , CM000668.2:g.158993853G>A	GRCh38
NC_000006.11:g.159414885G>A , CM000668.1:g.159414885G>A	GRCh37
NC_000006.10:g.159334873G>A	NCBI36
NG_051819.1:g.11335C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.190C>T MANE Select	ENSP00000356036.1:p.Gln64Ter
ENST00000252655.1:c.616C>T	ENSP00000252655.1:p.Gln206Ter
ENST00000367069.6:c.190C>T	ENSP00000356036.1:p.Gln64Ter
ENST00000449822.5:c.190C>T	ENSP00000393195.1:p.Gln64Ter
NM_031924.4:c.616C>T	NP_114130.3:p.Gln206Ter
XM_005267153.3:c.616C>T	XP_005267210.1:p.Gln206Ter
XR_245553.2:n.1072C>T
NM_001346418.1:c.616C>T	NP_001333347.1:p.Gln206Ter
NM_031924.5:c.616C>T	NP_114130.3:p.Gln206Ter
NR_144434.1:n.827C>T
XM_017011347.2:c.-59C>T	XP_016866836.1:n.-59C>T
XM_024446566.1:c.-187+5582C>T	XP_024302334.1:n.-187+5582C>T
XR_001743668.2:n.1066C>T
XR_001743669.2:n.1066C>T
XR_001743670.2:n.1066C>T
XR_001743671.2:n.414C>T
NM_031924.6:c.616C>T	NP_114130.3:p.Gln206Ter
NM_031924.8:c.190C>T MANE Select	NP_114130.4:p.Gln64Ter