Canonical Allele Identifier: CA470069208

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2704647
• ClinVar RCV Id: RCV003573072
• dbSNP Id: rs1385495296
• MyVariant Identifiers: chr10:g.73500614G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740857G>A , CM000672.2:g.71740857G>A	GRCh38
NC_000010.10:g.73500614G>A , CM000672.1:g.73500614G>A	GRCh37
NC_000010.9:g.73170620G>A	NCBI36
NG_008835.1:g.348911G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.4524G>A MANE Select	ENSP00000224721.9:p.Lys1508=
ENST00000224721.10:c.4539G>A	ENSP00000224721.8:p.Lys1513=
ENST00000398792.3:n.1213G>A
ENST00000622827.4:c.4524G>A	ENSP00000483211.1:p.Lys1508=
NM_022124.5:c.4524G>A	NP_071407.4:p.Lys1508=
XM_006717940.2:c.4719G>A	XP_006718003.1:p.Lys1573=
XM_006717942.2:c.4653G>A	XP_006718005.1:p.Lys1551=
XM_011540039.1:c.4716G>A	XP_011538341.1:p.Lys1572=
XM_011540040.1:c.4713G>A	XP_011538342.1:p.Lys1571=
XM_011540041.1:c.4659G>A	XP_011538343.1:p.Lys1553=
XM_011540042.1:c.4719G>A	XP_011538344.1:p.Lys1573=
XM_011540043.1:c.4719G>A	XP_011538345.1:p.Lys1573=
XM_011540044.1:c.4584G>A	XP_011538346.1:p.Lys1528=
XM_011540045.1:c.4719G>A	XP_011538347.1:p.Lys1573=
XM_011540046.1:c.4179G>A	XP_011538348.1:p.Lys1393=
XM_011540047.1:c.3537G>A	XP_011538349.1:p.Lys1179=
XM_011540048.1:c.4719G>A	XP_011538350.1:p.Lys1573=
XM_011540049.1:c.4719G>A	XP_011538351.1:p.Lys1573=
XM_011540050.1:c.4719G>A	XP_011538352.1:p.Lys1573=
XM_011540051.1:c.4719G>A	XP_011538353.1:p.Lys1573=
XM_011540052.1:c.1047G>A	XP_011538354.1:p.Lys349=
XM_011540053.1:c.4719G>A	XP_011538355.1:p.Lys1573=
XR_945796.1:n.4962G>A
NM_022124.6:c.4524G>A MANE Select	NP_071407.4:p.Lys1508=