Canonical Allele Identifier: CA5545741
Community Standard Title: NM_022124.6(CDH23):c.5397G>A (p.Gly1799=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71784315G>A , CM000672.2:g.71784315G>A GRCh38
NC_000010.10:g.73544072G>A , CM000672.1:g.73544072G>A GRCh37
NC_000010.9:g.73214078G>A NCBI36
NG_008835.1:g.392369G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.5397G>A MANE Select NP_071407.4:p.Gly1799=
ENST00000224721.12:c.5397G>A MANE Select ENSP00000224721.9:p.Gly1799=
NM_022124.5:c.5397G>A NP_071407.4:p.Gly1799=
ENST00000224721.10:c.5412G>A ENSP00000224721.8:p.Gly1804=
ENST00000622827.4:c.5397G>A ENSP00000483211.1:p.Gly1799=
XM_006717940.2:c.5592G>A XP_006718003.1:p.Gly1864=
XM_006717942.2:c.5526G>A XP_006718005.1:p.Gly1842=
XM_011540039.1:c.5589G>A XP_011538341.1:p.Gly1863=
XM_011540040.1:c.5586G>A XP_011538342.1:p.Gly1862=
XM_011540041.1:c.5532G>A XP_011538343.1:p.Gly1844=
XM_011540042.1:c.5592G>A XP_011538344.1:p.Gly1864=
XM_011540043.1:c.5592G>A XP_011538345.1:p.Gly1864=
XM_011540044.1:c.5457G>A XP_011538346.1:p.Gly1819=
XM_011540045.1:c.5592G>A XP_011538347.1:p.Gly1864=
XM_011540046.1:c.5052G>A XP_011538348.1:p.Gly1684=
XM_011540047.1:c.4410G>A XP_011538349.1:p.Gly1470=
XM_011540048.1:c.5592G>A XP_011538350.1:p.Gly1864=
XM_011540049.1:c.5592G>A XP_011538351.1:p.Gly1864=
XM_011540050.1:c.5592G>A XP_011538352.1:p.Gly1864=
XM_011540051.1:c.5592G>A XP_011538353.1:p.Gly1864=
XM_011540052.1:c.1920G>A XP_011538354.1:p.Gly640=
XM_011540053.1:c.5592G>A XP_011538355.1:p.Gly1864=
XR_945796.1:n.5835G>A