Canonical Allele Identifier: CA1918884943
Community Standard Title: NM_022124.6(CDH23):c.8083G= (p.Asp2695=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71806186G= , CM000672.2:g.71806186G= GRCh38
NC_000010.10:g.73565943G= , CM000672.1:g.73565943G= GRCh37
NC_000010.9:g.73235949G= NCBI36
NG_008835.1:g.414240G=

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.8083G= MANE Select NP_071407.4:p.Asp2695=
ENST00000224721.12:c.8083G= MANE Select ENSP00000224721.9:p.Asp2695=
NM_001171933.1:c.1363G= NP_001165404.1:p.Asp455=
NM_001171934.1:c.1363G= NP_001165405.1:p.Asp455=
NM_022124.5:c.8083G= NP_071407.4:p.Asp2695=
ENST00000224721.10:c.8098G= ENSP00000224721.8:p.Asp2700=
ENST00000398788.4:c.1363G= ENSP00000381768.3:p.Asp455=
ENST00000475158.1:n.1619G=
ENST00000619887.4:c.1363G= ENSP00000478374.1:p.Asp455=
ENST00000622827.4:c.8083G= ENSP00000483211.1:p.Asp2695=
ENST00000642965.1:c.2016G= ENSP00000495222.1:n.2016G=
ENST00000647092.1:c.1680G= ENSP00000495176.1:n.1680G=
XM_006717940.2:c.8278G= XP_006718003.1:p.Asp2760=
XM_006717942.2:c.8212G= XP_006718005.1:p.Asp2738=
XM_011540039.1:c.8275G= XP_011538341.1:p.Asp2759=
XM_011540040.1:c.8272G= XP_011538342.1:p.Asp2758=
XM_011540041.1:c.8218G= XP_011538343.1:p.Asp2740=
XM_011540042.1:c.8188G= XP_011538344.1:p.Asp2730=
XM_011540043.1:c.8278G= XP_011538345.1:p.Asp2760=
XM_011540044.1:c.8143G= XP_011538346.1:p.Asp2715=
XM_011540045.1:c.8278G= XP_011538347.1:p.Asp2760=
XM_011540046.1:c.7738G= XP_011538348.1:p.Asp2580=
XM_011540047.1:c.7096G= XP_011538349.1:p.Asp2366=
XM_011540052.1:c.4606G= XP_011538354.1:p.Asp1536=