Canonical Allele Identifier: CA377158113
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798499G>T , CM000672.2:g.71798499G>T GRCh38
NC_000010.10:g.73558256G>T , CM000672.1:g.73558256G>T GRCh37
NC_000010.9:g.73228262G>T NCBI36
NG_008835.1:g.406553G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6975G>T MANE Select ENSP00000224721.9:p.Lys2325Asn
ENST00000642965.1:c.908G>T ENSP00000495222.1:n.908G>T
ENST00000647092.1:c.572G>T ENSP00000495176.1:n.572G>T
ENST00000224721.10:c.6990G>T ENSP00000224721.8:p.Lys2330Asn
ENST00000398788.4:c.255G>T ENSP00000381768.3:p.Lys85Asn
ENST00000475158.1:n.511G>T
ENST00000619887.4:c.255G>T ENSP00000478374.1:p.Lys85Asn
ENST00000622827.4:c.6975G>T ENSP00000483211.1:p.Lys2325Asn
NM_001171933.1:c.255G>T NP_001165404.1:p.Lys85Asn
NM_001171934.1:c.255G>T NP_001165405.1:p.Lys85Asn
NM_022124.5:c.6975G>T NP_071407.4:p.Lys2325Asn
XM_006717940.2:c.7170G>T XP_006718003.1:p.Lys2390Asn
XM_006717942.2:c.7104G>T XP_006718005.1:p.Lys2368Asn
XM_011540039.1:c.7167G>T XP_011538341.1:p.Lys2389Asn
XM_011540040.1:c.7164G>T XP_011538342.1:p.Lys2388Asn
XM_011540041.1:c.7110G>T XP_011538343.1:p.Lys2370Asn
XM_011540042.1:c.7080G>T XP_011538344.1:p.Lys2360Asn
XM_011540043.1:c.7170G>T XP_011538345.1:p.Lys2390Asn
XM_011540044.1:c.7035G>T XP_011538346.1:p.Lys2345Asn
XM_011540045.1:c.7170G>T XP_011538347.1:p.Lys2390Asn
XM_011540046.1:c.6630G>T XP_011538348.1:p.Lys2210Asn
XM_011540047.1:c.5988G>T XP_011538349.1:p.Lys1996Asn
XM_011540052.1:c.3498G>T XP_011538354.1:p.Lys1166Asn
NM_022124.6:c.6975G>T MANE Select NP_071407.4:p.Lys2325Asn