Canonical Allele Identifier: CA377154704

Gene: CDH23

Linked Data

• dbSNP Id: rs2132953536
• MyVariant Identifiers: chr10:g.73553073G>A (hg19) ; chr10:g.71793316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793316G>A , CM000672.2:g.71793316G>A	GRCh38
NC_000010.10:g.73553073G>A , CM000672.1:g.73553073G>A	GRCh37
NC_000010.9:g.73223079G>A	NCBI36
NG_008835.1:g.401370G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6388G>A MANE Select	ENSP00000224721.9:p.Ala2130Thr
ENST00000224721.10:c.6403G>A	ENSP00000224721.8:p.Ala2135Thr
ENST00000622827.4:c.6388G>A	ENSP00000483211.1:p.Ala2130Thr
NM_022124.5:c.6388G>A	NP_071407.4:p.Ala2130Thr
XM_006717940.2:c.6583G>A	XP_006718003.1:p.Ala2195Thr
XM_006717942.2:c.6517G>A	XP_006718005.1:p.Ala2173Thr
XM_011540039.1:c.6580G>A	XP_011538341.1:p.Ala2194Thr
XM_011540040.1:c.6577G>A	XP_011538342.1:p.Ala2193Thr
XM_011540041.1:c.6523G>A	XP_011538343.1:p.Ala2175Thr
XM_011540042.1:c.6577+6G>A	XP_011538344.1:n.6577+6G>A
XM_011540043.1:c.6583G>A	XP_011538345.1:p.Ala2195Thr
XM_011540044.1:c.6448G>A	XP_011538346.1:p.Ala2150Thr
XM_011540045.1:c.6583G>A	XP_011538347.1:p.Ala2195Thr
XM_011540046.1:c.6043G>A	XP_011538348.1:p.Ala2015Thr
XM_011540047.1:c.5401G>A	XP_011538349.1:p.Ala1801Thr
XM_011540048.1:c.6583G>A	XP_011538350.1:p.Ala2195Thr
XM_011540049.1:c.6583G>A	XP_011538351.1:p.Ala2195Thr
XM_011540050.1:c.6583G>A	XP_011538352.1:p.Ala2195Thr
XM_011540051.1:c.6583G>A	XP_011538353.1:p.Ala2195Thr
XM_011540052.1:c.2911G>A	XP_011538354.1:p.Ala971Thr
XR_945796.1:n.6826G>A
NM_022124.6:c.6388G>A MANE Select	NP_071407.4:p.Ala2130Thr