Canonical Allele Identifier: CA2653320386

Gene: RIPOR3

Linked Data

• gnomAD v4: 20-50630713-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50630713G>T , CM000682.2:g.50630713G>T	GRCh38
NC_000020.10:g.49247250G>T , CM000682.1:g.49247250G>T	GRCh37
NC_000020.9:g.48680657G>T	NCBI36
NG_034040.1:g.65818C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327979.8:c.122+25C>A MANE Select	ENSP00000332663.3:n.122+25C>A
ENST00000045083.6:c.110+25C>A	ENSP00000045083.2:n.110+25C>A
ENST00000327979.6:c.110+25C>A	ENSP00000332663.2:n.110+25C>A
ENST00000462493.1:n.428+25C>A
NM_001290268.1:c.122+25C>A	NP_001277197.1:n.122+25C>A
NM_080829.3:c.110+25C>A	NP_543019.2:n.110+25C>A
NR_110890.1:n.709+25C>A
XM_005260294.3:c.122+25C>A	XP_005260351.1:n.122+25C>A
XM_006723713.2:c.122+25C>A	XP_006723776.1:n.122+25C>A
XM_011528578.1:c.122+25C>A	XP_011526880.1:n.122+25C>A
XM_011528579.1:c.110+25C>A	XP_011526881.1:n.110+25C>A
XM_011528580.1:c.110+25C>A	XP_011526882.1:n.110+25C>A
XM_011528581.1:c.110+25C>A	XP_011526883.1:n.110+25C>A
XM_011528583.1:c.122+25C>A	XP_011526885.1:n.122+25C>A
XM_011528584.1:c.122+25C>A	XP_011526886.1:n.122+25C>A
XM_011528586.1:c.122+25C>A	XP_011526888.1:n.122+25C>A
XR_936505.1:n.593+25C>A
XR_936506.1:n.594+25C>A
XM_006723713.4:c.122+25C>A	XP_006723776.1:n.122+25C>A
XM_011528578.2:c.122+25C>A	XP_011526880.1:n.122+25C>A
XM_011528579.2:c.110+25C>A	XP_011526881.1:n.110+25C>A
XM_011528580.2:c.110+25C>A	XP_011526882.1:n.110+25C>A
XM_011528581.2:c.110+25C>A	XP_011526883.1:n.110+25C>A
XM_011528584.3:c.122+25C>A	XP_011526886.1:n.122+25C>A
XM_011528586.2:c.122+25C>A	XP_011526888.1:n.122+25C>A
XM_017027682.2:c.122+25C>A	XP_016883171.1:n.122+25C>A
XR_001754183.1:n.586+25C>A
XR_936505.2:n.586+25C>A
XR_936506.3:n.587+25C>A
NM_001290268.2:c.122+25C>A MANE Select	NP_001277197.1:n.122+25C>A
NR_110890.2:n.721+25C>A
NM_080829.4:c.110+25C>A	NP_543019.2:n.110+25C>A