Canonical Allele Identifier: CA470069230

Gene: CDH23

Linked Data

• dbSNP Id: rs1319263813
• gnomAD v2: 10-73500650-C-A
• gnomAD v4: 10-71740893-C-A
• MyVariant Identifiers: chr10:g.73500650C>A (hg19) ; chr10:g.71740893C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740893C>A , CM000672.2:g.71740893C>A	GRCh38
NC_000010.10:g.73500650C>A , CM000672.1:g.73500650C>A	GRCh37
NC_000010.9:g.73170656C>A	NCBI36
NG_008835.1:g.348947C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4560C>A MANE Select	ENSP00000224721.9:p.Ile1520=
ENST00000224721.10:c.4575C>A	ENSP00000224721.8:p.Ile1525=
ENST00000398792.3:n.1249C>A
ENST00000622827.4:c.4560C>A	ENSP00000483211.1:p.Ile1520=
NM_022124.5:c.4560C>A	NP_071407.4:p.Ile1520=
XM_006717940.2:c.4755C>A	XP_006718003.1:p.Ile1585=
XM_006717942.2:c.4689C>A	XP_006718005.1:p.Ile1563=
XM_011540039.1:c.4752C>A	XP_011538341.1:p.Ile1584=
XM_011540040.1:c.4749C>A	XP_011538342.1:p.Ile1583=
XM_011540041.1:c.4695C>A	XP_011538343.1:p.Ile1565=
XM_011540042.1:c.4755C>A	XP_011538344.1:p.Ile1585=
XM_011540043.1:c.4755C>A	XP_011538345.1:p.Ile1585=
XM_011540044.1:c.4620C>A	XP_011538346.1:p.Ile1540=
XM_011540045.1:c.4755C>A	XP_011538347.1:p.Ile1585=
XM_011540046.1:c.4215C>A	XP_011538348.1:p.Ile1405=
XM_011540047.1:c.3573C>A	XP_011538349.1:p.Ile1191=
XM_011540048.1:c.4755C>A	XP_011538350.1:p.Ile1585=
XM_011540049.1:c.4755C>A	XP_011538351.1:p.Ile1585=
XM_011540050.1:c.4755C>A	XP_011538352.1:p.Ile1585=
XM_011540051.1:c.4755C>A	XP_011538353.1:p.Ile1585=
XM_011540052.1:c.1083C>A	XP_011538354.1:p.Ile361=
XM_011540053.1:c.4755C>A	XP_011538355.1:p.Ile1585=
XR_945796.1:n.4998C>A
NM_022124.6:c.4560C>A MANE Select	NP_071407.4:p.Ile1520=