Canonical Allele Identifier: CA377155199

Gene: CDH23

Linked Data

• dbSNP Id: rs1841317624
• gnomAD v3: 10-71793428-T-G
• gnomAD v4: 10-71793428-T-G
• MyVariant Identifiers: chr10:g.73553185T>G (hg19) ; chr10:g.71793428T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793428T>G , CM000672.2:g.71793428T>G	GRCh38
NC_000010.10:g.73553185T>G , CM000672.1:g.73553185T>G	GRCh37
NC_000010.9:g.73223191T>G	NCBI36
NG_008835.1:g.401482T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6500T>G MANE Select	ENSP00000224721.9:p.Ile2167Ser
ENST00000224721.10:c.6515T>G	ENSP00000224721.8:p.Ile2172Ser
ENST00000622827.4:c.6500T>G	ENSP00000483211.1:p.Ile2167Ser
NM_022124.5:c.6500T>G	NP_071407.4:p.Ile2167Ser
XM_006717940.2:c.6695T>G	XP_006718003.1:p.Ile2232Ser
XM_006717942.2:c.6629T>G	XP_006718005.1:p.Ile2210Ser
XM_011540039.1:c.6692T>G	XP_011538341.1:p.Ile2231Ser
XM_011540040.1:c.6689T>G	XP_011538342.1:p.Ile2230Ser
XM_011540041.1:c.6635T>G	XP_011538343.1:p.Ile2212Ser
XM_011540042.1:c.6605T>G	XP_011538344.1:p.Ile2202Ser
XM_011540043.1:c.6695T>G	XP_011538345.1:p.Ile2232Ser
XM_011540044.1:c.6560T>G	XP_011538346.1:p.Ile2187Ser
XM_011540045.1:c.6695T>G	XP_011538347.1:p.Ile2232Ser
XM_011540046.1:c.6155T>G	XP_011538348.1:p.Ile2052Ser
XM_011540047.1:c.5513T>G	XP_011538349.1:p.Ile1838Ser
XM_011540048.1:c.6695T>G	XP_011538350.1:p.Ile2232Ser
XM_011540049.1:c.6695T>G	XP_011538351.1:p.Ile2232Ser
XM_011540050.1:c.6695T>G	XP_011538352.1:p.Ile2232Ser
XM_011540051.1:c.6695T>G	XP_011538353.1:p.Ile2232Ser
XM_011540052.1:c.3023T>G	XP_011538354.1:p.Ile1008Ser
XR_945796.1:n.6938T>G
NM_022124.6:c.6500T>G MANE Select	NP_071407.4:p.Ile2167Ser