Canonical Allele Identifier: CA209466097

Gene: CDH23

Linked Data

• dbSNP Id: rs368778687
• gnomAD v2: 10-73553107-G-T
• gnomAD v3: 10-71793350-G-T
• gnomAD v4: 10-71793350-G-T
• MyVariant Identifiers: chr10:g.73553107G>T (hg19) ; chr10:g.71793350G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793350G>T , CM000672.2:g.71793350G>T	GRCh38
NC_000010.10:g.73553107G>T , CM000672.1:g.73553107G>T	GRCh37
NC_000010.9:g.73223113G>T	NCBI36
NG_008835.1:g.401404G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6422G>T MANE Select	ENSP00000224721.9:p.Arg2141Met
ENST00000224721.10:c.6437G>T	ENSP00000224721.8:p.Arg2146Met
ENST00000622827.4:c.6422G>T	ENSP00000483211.1:p.Arg2141Met
NM_022124.5:c.6422G>T	NP_071407.4:p.Arg2141Met
XM_006717940.2:c.6617G>T	XP_006718003.1:p.Arg2206Met
XM_006717942.2:c.6551G>T	XP_006718005.1:p.Arg2184Met
XM_011540039.1:c.6614G>T	XP_011538341.1:p.Arg2205Met
XM_011540040.1:c.6611G>T	XP_011538342.1:p.Arg2204Met
XM_011540041.1:c.6557G>T	XP_011538343.1:p.Arg2186Met
XM_011540042.1:c.6577+40G>T	XP_011538344.1:n.6577+40G>T
XM_011540043.1:c.6617G>T	XP_011538345.1:p.Arg2206Met
XM_011540044.1:c.6482G>T	XP_011538346.1:p.Arg2161Met
XM_011540045.1:c.6617G>T	XP_011538347.1:p.Arg2206Met
XM_011540046.1:c.6077G>T	XP_011538348.1:p.Arg2026Met
XM_011540047.1:c.5435G>T	XP_011538349.1:p.Arg1812Met
XM_011540048.1:c.6617G>T	XP_011538350.1:p.Arg2206Met
XM_011540049.1:c.6617G>T	XP_011538351.1:p.Arg2206Met
XM_011540050.1:c.6617G>T	XP_011538352.1:p.Arg2206Met
XM_011540051.1:c.6617G>T	XP_011538353.1:p.Arg2206Met
XM_011540052.1:c.2945G>T	XP_011538354.1:p.Arg982Met
XR_945796.1:n.6860G>T
NM_022124.6:c.6422G>T MANE Select	NP_071407.4:p.Arg2141Met