Canonical Allele Identifier: CA377157718
Gene: CDH23 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73558142T>G (hg19) chr10:g.71798385T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798385T>G , CM000672.2:g.71798385T>G GRCh38
NC_000010.10:g.73558142T>G , CM000672.1:g.73558142T>G GRCh37
NC_000010.9:g.73228148T>G NCBI36
NG_008835.1:g.406439T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6861T>G MANE Select ENSP00000224721.9:p.Asn2287Lys
ENST00000642965.1:c.794T>G ENSP00000495222.1:n.794T>G
ENST00000647092.1:c.458T>G ENSP00000495176.1:n.458T>G
ENST00000224721.10:c.6876T>G ENSP00000224721.8:p.Asn2292Lys
ENST00000398788.4:c.141T>G ENSP00000381768.3:p.Asn47Lys
ENST00000475158.1:n.397T>G
ENST00000619887.4:c.141T>G ENSP00000478374.1:p.Asn47Lys
ENST00000622827.4:c.6861T>G ENSP00000483211.1:p.Asn2287Lys
NM_001171933.1:c.141T>G NP_001165404.1:p.Asn47Lys
NM_001171934.1:c.141T>G NP_001165405.1:p.Asn47Lys
NM_022124.5:c.6861T>G NP_071407.4:p.Asn2287Lys
XM_006717940.2:c.7056T>G XP_006718003.1:p.Asn2352Lys
XM_006717942.2:c.6990T>G XP_006718005.1:p.Asn2330Lys
XM_011540039.1:c.7053T>G XP_011538341.1:p.Asn2351Lys
XM_011540040.1:c.7050T>G XP_011538342.1:p.Asn2350Lys
XM_011540041.1:c.6996T>G XP_011538343.1:p.Asn2332Lys
XM_011540042.1:c.6966T>G XP_011538344.1:p.Asn2322Lys
XM_011540043.1:c.7056T>G XP_011538345.1:p.Asn2352Lys
XM_011540044.1:c.6921T>G XP_011538346.1:p.Asn2307Lys
XM_011540045.1:c.7056T>G XP_011538347.1:p.Asn2352Lys
XM_011540046.1:c.6516T>G XP_011538348.1:p.Asn2172Lys
XM_011540047.1:c.5874T>G XP_011538349.1:p.Asn1958Lys
XM_011540052.1:c.3384T>G XP_011538354.1:p.Asn1128Lys
NM_022124.6:c.6861T>G MANE Select NP_071407.4:p.Asn2287Lys
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