Canonical Allele Identifier: CA510864592
Gene: RIPOR3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.49247324G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50630787G>T , CM000682.2:g.50630787G>T GRCh38
NC_000020.10:g.49247324G>T , CM000682.1:g.49247324G>T GRCh37
NC_000020.9:g.48680731G>T NCBI36
NG_034040.1:g.65744C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327979.8:c.73C>A MANE Select ENSP00000332663.3:p.Arg25=
ENST00000045083.6:c.61C>A ENSP00000045083.2:p.Arg21=
ENST00000327979.6:c.61C>A ENSP00000332663.2:p.Arg21=
ENST00000462493.1:n.379C>A
NM_001290268.1:c.73C>A NP_001277197.1:p.Arg25=
NM_080829.3:c.61C>A NP_543019.2:p.Arg21=
NR_110890.1:n.660C>A
XM_005260294.3:c.73C>A XP_005260351.1:p.Arg25=
XM_006723713.2:c.73C>A XP_006723776.1:p.Arg25=
XM_011528578.1:c.73C>A XP_011526880.1:p.Arg25=
XM_011528579.1:c.61C>A XP_011526881.1:p.Arg21=
XM_011528580.1:c.61C>A XP_011526882.1:p.Arg21=
XM_011528581.1:c.61C>A XP_011526883.1:p.Arg21=
XM_011528583.1:c.73C>A XP_011526885.1:p.Arg25=
XM_011528584.1:c.73C>A XP_011526886.1:p.Arg25=
XM_011528586.1:c.73C>A XP_011526888.1:p.Arg25=
XR_936505.1:n.544C>A
XR_936506.1:n.545C>A
XM_006723713.4:c.73C>A XP_006723776.1:p.Arg25=
XM_011528578.2:c.73C>A XP_011526880.1:p.Arg25=
XM_011528579.2:c.61C>A XP_011526881.1:p.Arg21=
XM_011528580.2:c.61C>A XP_011526882.1:p.Arg21=
XM_011528581.2:c.61C>A XP_011526883.1:p.Arg21=
XM_011528584.3:c.73C>A XP_011526886.1:p.Arg25=
XM_011528586.2:c.73C>A XP_011526888.1:p.Arg25=
XM_017027682.2:c.73C>A XP_016883171.1:p.Arg25=
XR_001754183.1:n.537C>A
XR_936505.2:n.537C>A
XR_936506.3:n.538C>A
NM_001290268.2:c.73C>A MANE Select NP_001277197.1:p.Arg25=
NR_110890.2:n.672C>A
NM_080829.4:c.61C>A NP_543019.2:p.Arg21=