Canonical Allele Identifier: CA366280366

Gene: RSPH3

Linked Data

• gnomAD v4: 6-158982503-C-A
• MyVariant Identifiers: chr6:g.159403535C>A (hg19) ; chr6:g.158982503C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982503C>A , CM000668.2:g.158982503C>A	GRCh38
NC_000006.11:g.159403535C>A , CM000668.1:g.159403535C>A	GRCh37
NC_000006.10:g.159323523C>A	NCBI36
NG_051819.1:g.22685G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.678G>T MANE Select	ENSP00000356036.1:p.Arg226Ser
ENST00000252655.1:c.1104G>T	ENSP00000252655.1:p.Arg368Ser
ENST00000367069.6:c.678G>T	ENSP00000356036.1:p.Arg226Ser
ENST00000449822.5:c.390G>T	ENSP00000393195.1:p.Arg130Ser
NM_031924.4:c.1104G>T	NP_114130.3:p.Arg368Ser
XM_005267153.3:c.816G>T	XP_005267210.1:p.Arg272Ser
XR_245553.2:n.1560G>T
NM_001346418.1:c.816G>T	NP_001333347.1:p.Arg272Ser
NM_031924.5:c.1104G>T	NP_114130.3:p.Arg368Ser
NR_144434.1:n.1315G>T
XM_017011347.2:c.288G>T	XP_016866836.1:p.Arg96Ser
XM_024446566.1:c.288G>T	XP_024302334.1:p.Arg96Ser
XR_001743668.2:n.1554G>T
XR_001743669.2:n.1554G>T
XR_001743670.2:n.1266G>T
XR_001743671.2:n.760G>T
NM_031924.6:c.1104G>T	NP_114130.3:p.Arg368Ser
NM_031924.8:c.678G>T MANE Select	NP_114130.4:p.Arg226Ser