Canonical Allele Identifier: CA16609448
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 397608
ClinVar RCV Id: RCV000449554
dbSNP Id: rs1060499714
MyVariant Identifiers: chr10:g.73447403G>A (hg19) chr10:g.71687646G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71687646G>A , CM000672.2:g.71687646G>A GRCh38
NC_000010.10:g.73447403G>A , CM000672.1:g.73447403G>A GRCh37
NC_000010.9:g.73117409G>A NCBI36
NG_008835.1:g.295700G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.1987-1G>A MANE Select ENSP00000224721.9:n.1987-1G>A
ENST00000398809.9:c.1987-1G>A ENSP00000381789.5:n.1987-1G>A
ENST00000442677.4:c.1987-1G>A ENSP00000388894.3:n.1987-1G>A
ENST00000466757.8:c.1418-1G>A
ENST00000224721.10:c.2002-1G>A ENSP00000224721.8:n.2002-1G>A
ENST00000299366.11:c.1987-1G>A ENSP00000299366.8:n.1987-1G>A
ENST00000398809.8:c.1987-1G>A ENSP00000381789.5:n.1987-1G>A
ENST00000442677.3:c.762-1G>A
ENST00000466757.7:c.1418-1G>A
ENST00000616684.4:c.1987-1G>A ENSP00000482036.2:n.1987-1G>A
ENST00000622827.4:c.1987-1G>A ENSP00000483211.1:n.1987-1G>A
NM_001171930.1:c.1987-1G>A NP_001165401.1:n.1987-1G>A
NM_001171931.1:c.1987-1G>A NP_001165402.1:n.1987-1G>A
NM_022124.5:c.1987-1G>A NP_071407.4:n.1987-1G>A
XM_006717940.2:c.2182-1G>A XP_006718003.1:n.2182-1G>A
XM_006717942.2:c.2116-1G>A XP_006718005.1:n.2116-1G>A
XM_011540039.1:c.2182-1G>A XP_011538341.1:n.2182-1G>A
XM_011540040.1:c.2176-1G>A XP_011538342.1:n.2176-1G>A
XM_011540041.1:c.2122-1G>A XP_011538343.1:n.2122-1G>A
XM_011540042.1:c.2182-1G>A XP_011538344.1:n.2182-1G>A
XM_011540043.1:c.2182-1G>A XP_011538345.1:n.2182-1G>A
XM_011540044.1:c.2047-1G>A XP_011538346.1:n.2047-1G>A
XM_011540045.1:c.2182-1G>A XP_011538347.1:n.2182-1G>A
XM_011540046.1:c.1642-1G>A XP_011538348.1:n.1642-1G>A
XM_011540047.1:c.1000-1G>A XP_011538349.1:n.1000-1G>A
XM_011540048.1:c.2182-1G>A XP_011538350.1:n.2182-1G>A
XM_011540049.1:c.2182-1G>A XP_011538351.1:n.2182-1G>A
XM_011540050.1:c.2182-1G>A XP_011538352.1:n.2182-1G>A
XM_011540051.1:c.2182-1G>A XP_011538353.1:n.2182-1G>A
XM_011540053.1:c.2182-1G>A XP_011538355.1:n.2182-1G>A
XM_011540054.1:c.2122-1G>A XP_011538356.1:n.2122-1G>A
XR_945796.1:n.2425-1G>A
NM_001171930.2:c.1987-1G>A NP_001165401.1:n.1987-1G>A
NM_001171931.2:c.1987-1G>A NP_001165402.1:n.1987-1G>A
NM_022124.6:c.1987-1G>A MANE Select NP_071407.4:n.1987-1G>A
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