Canonical Allele Identifier: CA1676375771

Gene: RSPH3

Linked Data

• dbSNP Id: rs1778062691
• gnomAD v4: 6-158982432-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982432A>G , CM000668.2:g.158982432A>G	GRCh38
NC_000006.11:g.159403464A>G , CM000668.1:g.159403464A>G	GRCh37
NC_000006.10:g.159323452A>G	NCBI36
NG_051819.1:g.22756T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367069.7:c.696+53T>C MANE Select	ENSP00000356036.1:n.696+53T>C
ENST00000252655.1:c.1122+53T>C	ENSP00000252655.1:n.1122+53T>C
ENST00000367069.6:c.696+53T>C	ENSP00000356036.1:n.696+53T>C
ENST00000449822.5:c.408+53T>C	ENSP00000393195.1:n.408+53T>C
NM_031924.4:c.1122+53T>C	NP_114130.3:n.1122+53T>C
XM_005267153.3:c.834+53T>C	XP_005267210.1:n.834+53T>C
XR_245553.2:n.1578+53T>C
NM_001346418.1:c.834+53T>C	NP_001333347.1:n.834+53T>C
NM_031924.5:c.1122+53T>C	NP_114130.3:n.1122+53T>C
NR_144434.1:n.1333+53T>C
XM_017011347.2:c.306+53T>C	XP_016866836.1:n.306+53T>C
XM_024446566.1:c.306+53T>C	XP_024302334.1:n.306+53T>C
XR_001743668.2:n.1572+53T>C
XR_001743669.2:n.1572+53T>C
XR_001743670.2:n.1284+53T>C
XR_001743671.2:n.778+53T>C
NM_031924.6:c.1122+53T>C	NP_114130.3:n.1122+53T>C
NM_031924.8:c.696+53T>C MANE Select	NP_114130.4:n.696+53T>C