Canonical Allele Identifier: CA209465999

Gene: CDH23

Linked Data

• dbSNP Id: rs541409275
• gnomAD v3: 10-71793258-T-G
• gnomAD v4: 10-71793258-T-G
• MyVariant Identifiers: chr10:g.73553015T>G (hg19) ; chr10:g.71793258T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793258T>G , CM000672.2:g.71793258T>G	GRCh38
NC_000010.10:g.73553015T>G , CM000672.1:g.73553015T>G	GRCh37
NC_000010.9:g.73223021T>G	NCBI36
NG_008835.1:g.401312T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6330T>G MANE Select	ENSP00000224721.9:p.Ala2110=
ENST00000224721.10:c.6345T>G	ENSP00000224721.8:p.Ala2115=
ENST00000622827.4:c.6330T>G	ENSP00000483211.1:p.Ala2110=
NM_022124.5:c.6330T>G	NP_071407.4:p.Ala2110=
XM_006717940.2:c.6525T>G	XP_006718003.1:p.Ala2175=
XM_006717942.2:c.6459T>G	XP_006718005.1:p.Ala2153=
XM_011540039.1:c.6522T>G	XP_011538341.1:p.Ala2174=
XM_011540040.1:c.6519T>G	XP_011538342.1:p.Ala2173=
XM_011540041.1:c.6465T>G	XP_011538343.1:p.Ala2155=
XM_011540042.1:c.6525T>G	XP_011538344.1:p.Ala2175=
XM_011540043.1:c.6525T>G	XP_011538345.1:p.Ala2175=
XM_011540044.1:c.6390T>G	XP_011538346.1:p.Ala2130=
XM_011540045.1:c.6525T>G	XP_011538347.1:p.Ala2175=
XM_011540046.1:c.5985T>G	XP_011538348.1:p.Ala1995=
XM_011540047.1:c.5343T>G	XP_011538349.1:p.Ala1781=
XM_011540048.1:c.6525T>G	XP_011538350.1:p.Ala2175=
XM_011540049.1:c.6525T>G	XP_011538351.1:p.Ala2175=
XM_011540050.1:c.6525T>G	XP_011538352.1:p.Ala2175=
XM_011540051.1:c.6525T>G	XP_011538353.1:p.Ala2175=
XM_011540052.1:c.2853T>G	XP_011538354.1:p.Ala951=
XR_945796.1:n.6768T>G
NM_022124.6:c.6330T>G MANE Select	NP_071407.4:p.Ala2110=