Canonical Allele Identifier: CA4075848

Gene: RSPH3

Linked Data

• dbSNP Id: rs773121754
• ExAC: 6:159403538 C / A
• gnomAD v2: 6-159403538-C-A
• gnomAD v3: 6-158982506-C-A
• gnomAD v4: 6-158982506-C-A
• MyVariant Identifiers: chr6:g.159403538C>A (hg19) ; chr6:g.158982506C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000367069.7:c.675G>T MANE Select	ENSP00000356036.1:p.Glu225Asp
ENST00000252655.1:c.1101G>T	ENSP00000252655.1:p.Glu367Asp
ENST00000367069.6:c.675G>T	ENSP00000356036.1:p.Glu225Asp
ENST00000449822.5:c.387G>T	ENSP00000393195.1:p.Glu129Asp
NM_031924.4:c.1101G>T	NP_114130.3:p.Glu367Asp
XM_005267153.3:c.813G>T	XP_005267210.1:p.Glu271Asp
XR_245553.2:n.1557G>T
NM_001346418.1:c.813G>T	NP_001333347.1:p.Glu271Asp
NM_031924.5:c.1101G>T	NP_114130.3:p.Glu367Asp
NR_144434.1:n.1312G>T
XM_017011347.2:c.285G>T	XP_016866836.1:p.Glu95Asp
XM_024446566.1:c.285G>T	XP_024302334.1:p.Glu95Asp
XR_001743668.2:n.1551G>T
XR_001743669.2:n.1551G>T
XR_001743670.2:n.1263G>T
XR_001743671.2:n.757G>T
NM_031924.6:c.1101G>T	NP_114130.3:p.Glu367Asp
NM_031924.8:c.675G>T MANE Select	NP_114130.4:p.Glu225Asp