Canonical Allele Identifier: CA175504
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 162932
ClinVar RCV Id: RCV000150309
dbSNP Id: rs555684781
ExAC: 10:73553340 G / A
gnomAD v2: 10-73553340-G-A
gnomAD v3: 10-71793583-G-A
gnomAD v4: 10-71793583-G-A
MyVariant Identifiers: chr10:g.73553340G>A (hg19) chr10:g.71793583G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71793583G>A , CM000672.2:g.71793583G>A GRCh38
NC_000010.10:g.73553340G>A , CM000672.1:g.73553340G>A GRCh37
NC_000010.9:g.73223346G>A NCBI36
NG_008835.1:g.401637G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6655G>A MANE Select ENSP00000224721.9:p.Asp2219Asn
ENST00000224721.10:c.6670G>A ENSP00000224721.8:p.Asp2224Asn
ENST00000622827.4:c.6655G>A ENSP00000483211.1:p.Asp2219Asn
NM_022124.5:c.6655G>A NP_071407.4:p.Asp2219Asn
XM_006717940.2:c.6850G>A XP_006718003.1:p.Asp2284Asn
XM_006717942.2:c.6784G>A XP_006718005.1:p.Asp2262Asn
XM_011540039.1:c.6847G>A XP_011538341.1:p.Asp2283Asn
XM_011540040.1:c.6844G>A XP_011538342.1:p.Asp2282Asn
XM_011540041.1:c.6790G>A XP_011538343.1:p.Asp2264Asn
XM_011540042.1:c.6760G>A XP_011538344.1:p.Asp2254Asn
XM_011540043.1:c.6850G>A XP_011538345.1:p.Asp2284Asn
XM_011540044.1:c.6715G>A XP_011538346.1:p.Asp2239Asn
XM_011540045.1:c.6850G>A XP_011538347.1:p.Asp2284Asn
XM_011540046.1:c.6310G>A XP_011538348.1:p.Asp2104Asn
XM_011540047.1:c.5668G>A XP_011538349.1:p.Asp1890Asn
XM_011540048.1:c.6850G>A XP_011538350.1:p.Asp2284Asn
XM_011540049.1:c.6850G>A XP_011538351.1:p.Asp2284Asn
XM_011540050.1:c.6850G>A XP_011538352.1:p.Asp2284Asn
XM_011540051.1:c.6850G>A XP_011538353.1:p.Asp2284Asn
XM_011540052.1:c.3178G>A XP_011538354.1:p.Asp1060Asn
XR_945796.1:n.7093G>A
NM_022124.6:c.6655G>A MANE Select NP_071407.4:p.Asp2219Asn
Search 100 bp 5'
Search 100 bp 3'