Canonical Allele Identifier: CA377131295
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807522A>G , CM000672.2:g.71807522A>G GRCh38
NC_000010.10:g.73567279A>G , CM000672.1:g.73567279A>G GRCh37
NC_000010.9:g.73237285A>G NCBI36
NG_008835.1:g.415576A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.8315A>G MANE Select ENSP00000224721.9:p.Asn2772Ser
ENST00000642965.1:c.2248A>G ENSP00000495222.1:n.2248A>G
ENST00000647092.1:c.1912A>G ENSP00000495176.1:n.1912A>G
ENST00000224721.10:c.8330A>G ENSP00000224721.8:p.Asn2777Ser
ENST00000398788.4:c.1595A>G ENSP00000381768.3:p.Asn532Ser
ENST00000475158.1:n.1851A>G
ENST00000619887.4:c.1595A>G ENSP00000478374.1:p.Asn532Ser
ENST00000622827.4:c.8315A>G ENSP00000483211.1:p.Asn2772Ser
NM_001171933.1:c.1595A>G NP_001165404.1:p.Asn532Ser
NM_001171934.1:c.1595A>G NP_001165405.1:p.Asn532Ser
NM_022124.5:c.8315A>G NP_071407.4:p.Asn2772Ser
XM_006717940.2:c.8510A>G XP_006718003.1:p.Asn2837Ser
XM_006717942.2:c.8444A>G XP_006718005.1:p.Asn2815Ser
XM_011540039.1:c.8507A>G XP_011538341.1:p.Asn2836Ser
XM_011540040.1:c.8504A>G XP_011538342.1:p.Asn2835Ser
XM_011540041.1:c.8450A>G XP_011538343.1:p.Asn2817Ser
XM_011540042.1:c.8420A>G XP_011538344.1:p.Asn2807Ser
XM_011540043.1:c.8510A>G XP_011538345.1:p.Asn2837Ser
XM_011540044.1:c.8375A>G XP_011538346.1:p.Asn2792Ser
XM_011540045.1:c.8510A>G XP_011538347.1:p.Asn2837Ser
XM_011540046.1:c.7970A>G XP_011538348.1:p.Asn2657Ser
XM_011540047.1:c.7328A>G XP_011538349.1:p.Asn2443Ser
XM_011540052.1:c.4838A>G XP_011538354.1:p.Asn1613Ser
NM_022124.6:c.8315A>G MANE Select NP_071407.4:p.Asn2772Ser