Canonical Allele Identifier: CA4075798

Gene: RSPH3

Linked Data

• ClinVar Variation Id: 646621
• ClinVar RCV Id: RCV000800947 ; RCV004028044
• dbSNP Id: rs533324922
• ExAC: 6:159401814 A / G
• gnomAD v2: 6-159401814-A-G
• gnomAD v3: 6-158980782-A-G
• gnomAD v4: 6-158980782-A-G
• MyVariant Identifiers: chr6:g.159401814A>G (hg19) ; chr6:g.158980782A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158980782A>G , CM000668.2:g.158980782A>G	GRCh38
NC_000006.11:g.159401814A>G , CM000668.1:g.159401814A>G	GRCh37
NC_000006.10:g.159321802A>G	NCBI36
NG_051819.1:g.24406T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.851T>C MANE Select	ENSP00000356036.1:p.Ile284Thr
ENST00000252655.1:c.1277T>C	ENSP00000252655.1:p.Ile426Thr
ENST00000367069.6:c.851T>C	ENSP00000356036.1:p.Ile284Thr
ENST00000449822.5:c.563T>C	ENSP00000393195.1:p.Ile188Thr
NM_031924.4:c.1277T>C	NP_114130.3:p.Ile426Thr
XM_005267153.3:c.989T>C	XP_005267210.1:p.Ile330Thr
XR_245553.2:n.1733T>C
NM_001346418.1:c.989T>C	NP_001333347.1:p.Ile330Thr
NM_031924.5:c.1277T>C	NP_114130.3:p.Ile426Thr
NR_144434.1:n.1488T>C
XM_017011347.2:c.461T>C	XP_016866836.1:p.Ile154Thr
XM_024446566.1:c.461T>C	XP_024302334.1:p.Ile154Thr
XR_001743668.2:n.1727T>C
XR_001743669.2:n.1727T>C
XR_001743670.2:n.1439T>C
XR_001743671.2:n.933T>C
NM_031924.6:c.1277T>C	NP_114130.3:p.Ile426Thr
NM_031924.8:c.851T>C MANE Select	NP_114130.4:p.Ile284Thr