Canonical Allele Identifier: CA377160524
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71740882A>C , CM000672.2:g.71740882A>C GRCh38
NC_000010.10:g.73500639A>C , CM000672.1:g.73500639A>C GRCh37
NC_000010.9:g.73170645A>C NCBI36
NG_008835.1:g.348936A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.4549A>C MANE Select ENSP00000224721.9:p.Ile1517Leu
ENST00000224721.10:c.4564A>C ENSP00000224721.8:p.Ile1522Leu
ENST00000398792.3:n.1238A>C
ENST00000622827.4:c.4549A>C ENSP00000483211.1:p.Ile1517Leu
NM_022124.5:c.4549A>C NP_071407.4:p.Ile1517Leu
XM_006717940.2:c.4744A>C XP_006718003.1:p.Ile1582Leu
XM_006717942.2:c.4678A>C XP_006718005.1:p.Ile1560Leu
XM_011540039.1:c.4741A>C XP_011538341.1:p.Ile1581Leu
XM_011540040.1:c.4738A>C XP_011538342.1:p.Ile1580Leu
XM_011540041.1:c.4684A>C XP_011538343.1:p.Ile1562Leu
XM_011540042.1:c.4744A>C XP_011538344.1:p.Ile1582Leu
XM_011540043.1:c.4744A>C XP_011538345.1:p.Ile1582Leu
XM_011540044.1:c.4609A>C XP_011538346.1:p.Ile1537Leu
XM_011540045.1:c.4744A>C XP_011538347.1:p.Ile1582Leu
XM_011540046.1:c.4204A>C XP_011538348.1:p.Ile1402Leu
XM_011540047.1:c.3562A>C XP_011538349.1:p.Ile1188Leu
XM_011540048.1:c.4744A>C XP_011538350.1:p.Ile1582Leu
XM_011540049.1:c.4744A>C XP_011538351.1:p.Ile1582Leu
XM_011540050.1:c.4744A>C XP_011538352.1:p.Ile1582Leu
XM_011540051.1:c.4744A>C XP_011538353.1:p.Ile1582Leu
XM_011540052.1:c.1072A>C XP_011538354.1:p.Ile358Leu
XM_011540053.1:c.4744A>C XP_011538355.1:p.Ile1582Leu
XR_945796.1:n.4987A>C
NM_022124.6:c.4549A>C MANE Select NP_071407.4:p.Ile1517Leu