Canonical Allele Identifier: CA452846079

Gene: RSPH3

Linked Data

• dbSNP Id: rs773121754
• gnomAD v3: 6-158982506-C-T
• gnomAD v4: 6-158982506-C-T
• MyVariant Identifiers: chr6:g.159403538C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982506C>T , CM000668.2:g.158982506C>T	GRCh38
NC_000006.11:g.159403538C>T , CM000668.1:g.159403538C>T	GRCh37
NC_000006.10:g.159323526C>T	NCBI36
NG_051819.1:g.22682G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.675G>A MANE Select	ENSP00000356036.1:p.Glu225=
ENST00000252655.1:c.1101G>A	ENSP00000252655.1:p.Glu367=
ENST00000367069.6:c.675G>A	ENSP00000356036.1:p.Glu225=
ENST00000449822.5:c.387G>A	ENSP00000393195.1:p.Glu129=
NM_031924.4:c.1101G>A	NP_114130.3:p.Glu367=
XM_005267153.3:c.813G>A	XP_005267210.1:p.Glu271=
XR_245553.2:n.1557G>A
NM_001346418.1:c.813G>A	NP_001333347.1:p.Glu271=
NM_031924.5:c.1101G>A	NP_114130.3:p.Glu367=
NR_144434.1:n.1312G>A
XM_017011347.2:c.285G>A	XP_016866836.1:p.Glu95=
XM_024446566.1:c.285G>A	XP_024302334.1:p.Glu95=
XR_001743668.2:n.1551G>A
XR_001743669.2:n.1551G>A
XR_001743670.2:n.1263G>A
XR_001743671.2:n.757G>A
NM_031924.6:c.1101G>A	NP_114130.3:p.Glu367=
NM_031924.8:c.675G>A MANE Select	NP_114130.4:p.Glu225=