Canonical Allele Identifier: CA377158092
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798494G>A , CM000672.2:g.71798494G>A GRCh38
NC_000010.10:g.73558251G>A , CM000672.1:g.73558251G>A GRCh37
NC_000010.9:g.73228257G>A NCBI36
NG_008835.1:g.406548G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6970G>A MANE Select ENSP00000224721.9:p.Asp2324Asn
ENST00000642965.1:c.903G>A ENSP00000495222.1:n.903G>A
ENST00000647092.1:c.567G>A ENSP00000495176.1:n.567G>A
ENST00000224721.10:c.6985G>A ENSP00000224721.8:p.Asp2329Asn
ENST00000398788.4:c.250G>A ENSP00000381768.3:p.Asp84Asn
ENST00000475158.1:n.506G>A
ENST00000619887.4:c.250G>A ENSP00000478374.1:p.Asp84Asn
ENST00000622827.4:c.6970G>A ENSP00000483211.1:p.Asp2324Asn
NM_001171933.1:c.250G>A NP_001165404.1:p.Asp84Asn
NM_001171934.1:c.250G>A NP_001165405.1:p.Asp84Asn
NM_022124.5:c.6970G>A NP_071407.4:p.Asp2324Asn
XM_006717940.2:c.7165G>A XP_006718003.1:p.Asp2389Asn
XM_006717942.2:c.7099G>A XP_006718005.1:p.Asp2367Asn
XM_011540039.1:c.7162G>A XP_011538341.1:p.Asp2388Asn
XM_011540040.1:c.7159G>A XP_011538342.1:p.Asp2387Asn
XM_011540041.1:c.7105G>A XP_011538343.1:p.Asp2369Asn
XM_011540042.1:c.7075G>A XP_011538344.1:p.Asp2359Asn
XM_011540043.1:c.7165G>A XP_011538345.1:p.Asp2389Asn
XM_011540044.1:c.7030G>A XP_011538346.1:p.Asp2344Asn
XM_011540045.1:c.7165G>A XP_011538347.1:p.Asp2389Asn
XM_011540046.1:c.6625G>A XP_011538348.1:p.Asp2209Asn
XM_011540047.1:c.5983G>A XP_011538349.1:p.Asp1995Asn
XM_011540052.1:c.3493G>A XP_011538354.1:p.Asp1165Asn
NM_022124.6:c.6970G>A MANE Select NP_071407.4:p.Asp2324Asn