Canonical Allele Identifier: CA2697558448
Community Standard Title: NM_022124.6(CDH23):c.6713-19G>T
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71797085G>T , CM000672.2:g.71797085G>T GRCh38
NC_000010.10:g.73556842G>T , CM000672.1:g.73556842G>T GRCh37
NC_000010.9:g.73226848G>T NCBI36
NG_008835.1:g.405139G>T

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.6713-19G>T MANE Select NP_071407.4:n.6713-19G>T
ENST00000224721.12:c.6713-19G>T MANE Select ENSP00000224721.9:n.6713-19G>T
NM_001171933.1:c.-8-19G>T NP_001165404.1:n.-8-19G>T
NM_001171934.1:c.-8-19G>T NP_001165405.1:n.-8-19G>T
NM_022124.5:c.6713-19G>T NP_071407.4:n.6713-19G>T
ENST00000224721.10:c.6728-19G>T ENSP00000224721.8:n.6728-19G>T
ENST00000398788.4:c.-8-19G>T ENSP00000381768.3:n.-8-19G>T
ENST00000475158.1:n.230G>T
ENST00000619887.4:c.-8-19G>T ENSP00000478374.1:n.-8-19G>T
ENST00000622827.4:c.6713-19G>T ENSP00000483211.1:n.6713-19G>T
ENST00000642965.1:c.646-19G>T ENSP00000495222.1:n.646-19G>T
ENST00000647092.1:c.310-19G>T ENSP00000495176.1:n.310-19G>T
XM_006717940.2:c.6908-19G>T XP_006718003.1:n.6908-19G>T
XM_006717942.2:c.6842-19G>T XP_006718005.1:n.6842-19G>T
XM_011540039.1:c.6905-19G>T XP_011538341.1:n.6905-19G>T
XM_011540040.1:c.6902-19G>T XP_011538342.1:n.6902-19G>T
XM_011540041.1:c.6848-19G>T XP_011538343.1:n.6848-19G>T
XM_011540042.1:c.6818-19G>T XP_011538344.1:n.6818-19G>T
XM_011540043.1:c.6908-19G>T XP_011538345.1:n.6908-19G>T
XM_011540044.1:c.6773-19G>T XP_011538346.1:n.6773-19G>T
XM_011540045.1:c.6908-19G>T XP_011538347.1:n.6908-19G>T
XM_011540046.1:c.6368-19G>T XP_011538348.1:n.6368-19G>T
XM_011540047.1:c.5726-19G>T XP_011538349.1:n.5726-19G>T
XM_011540050.1:c.*8-19G>T XP_011538352.1:n.*8-19G>T
XM_011540052.1:c.3236-19G>T XP_011538354.1:n.3236-19G>T