Canonical Allele Identifier: CA821505125

Gene: RSPH3

Linked Data

• dbSNP Id: rs1350110074
• gnomAD v3: 6-158982428-C-T
• gnomAD v4: 6-158982428-C-T
• MyVariant Identifiers: chr6:g.159403460C>T (hg19) ; chr6:g.158982428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982428C>T , CM000668.2:g.158982428C>T	GRCh38
NC_000006.11:g.159403460C>T , CM000668.1:g.159403460C>T	GRCh37
NC_000006.10:g.159323448C>T	NCBI36
NG_051819.1:g.22760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.696+57G>A MANE Select	ENSP00000356036.1:n.696+57G>A
ENST00000252655.1:c.1122+57G>A	ENSP00000252655.1:n.1122+57G>A
ENST00000367069.6:c.696+57G>A	ENSP00000356036.1:n.696+57G>A
ENST00000449822.5:c.408+57G>A	ENSP00000393195.1:n.408+57G>A
NM_031924.4:c.1122+57G>A	NP_114130.3:n.1122+57G>A
XM_005267153.3:c.834+57G>A	XP_005267210.1:n.834+57G>A
XR_245553.2:n.1578+57G>A
NM_001346418.1:c.834+57G>A	NP_001333347.1:n.834+57G>A
NM_031924.5:c.1122+57G>A	NP_114130.3:n.1122+57G>A
NR_144434.1:n.1333+57G>A
XM_017011347.2:c.306+57G>A	XP_016866836.1:n.306+57G>A
XM_024446566.1:c.306+57G>A	XP_024302334.1:n.306+57G>A
XR_001743668.2:n.1572+57G>A
XR_001743669.2:n.1572+57G>A
XR_001743670.2:n.1284+57G>A
XR_001743671.2:n.778+57G>A
NM_031924.6:c.1122+57G>A	NP_114130.3:n.1122+57G>A
NM_031924.8:c.696+57G>A MANE Select	NP_114130.4:n.696+57G>A