Canonical Allele Identifier: CA377160660

Gene: CDH23

Linked Data

• dbSNP Id: rs1839717302
• gnomAD v4: 10-71740912-A-G
• MyVariant Identifiers: chr10:g.73500669A>G (hg19) ; chr10:g.71740912A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740912A>G , CM000672.2:g.71740912A>G	GRCh38
NC_000010.10:g.73500669A>G , CM000672.1:g.73500669A>G	GRCh37
NC_000010.9:g.73170675A>G	NCBI36
NG_008835.1:g.348966A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4579A>G MANE Select	ENSP00000224721.9:p.Ile1527Val
ENST00000224721.10:c.4594A>G	ENSP00000224721.8:p.Ile1532Val
ENST00000398792.3:n.1268A>G
ENST00000622827.4:c.4579A>G	ENSP00000483211.1:p.Ile1527Val
NM_022124.5:c.4579A>G	NP_071407.4:p.Ile1527Val
XM_006717940.2:c.4774A>G	XP_006718003.1:p.Ile1592Val
XM_006717942.2:c.4708A>G	XP_006718005.1:p.Ile1570Val
XM_011540039.1:c.4771A>G	XP_011538341.1:p.Ile1591Val
XM_011540040.1:c.4768A>G	XP_011538342.1:p.Ile1590Val
XM_011540041.1:c.4714A>G	XP_011538343.1:p.Ile1572Val
XM_011540042.1:c.4774A>G	XP_011538344.1:p.Ile1592Val
XM_011540043.1:c.4774A>G	XP_011538345.1:p.Ile1592Val
XM_011540044.1:c.4639A>G	XP_011538346.1:p.Ile1547Val
XM_011540045.1:c.4774A>G	XP_011538347.1:p.Ile1592Val
XM_011540046.1:c.4234A>G	XP_011538348.1:p.Ile1412Val
XM_011540047.1:c.3592A>G	XP_011538349.1:p.Ile1198Val
XM_011540048.1:c.4774A>G	XP_011538350.1:p.Ile1592Val
XM_011540049.1:c.4774A>G	XP_011538351.1:p.Ile1592Val
XM_011540050.1:c.4774A>G	XP_011538352.1:p.Ile1592Val
XM_011540051.1:c.4774A>G	XP_011538353.1:p.Ile1592Val
XM_011540052.1:c.1102A>G	XP_011538354.1:p.Ile368Val
XM_011540053.1:c.4774A>G	XP_011538355.1:p.Ile1592Val
XR_945796.1:n.5017A>G
NM_022124.6:c.4579A>G MANE Select	NP_071407.4:p.Ile1527Val