Canonical Allele Identifier: CA377154360

Gene: CDH23

Linked Data

• dbSNP Id: rs2132953397
• gnomAD v4: 10-71793260-G-A
• MyVariant Identifiers: chr10:g.73553017G>A (hg19) ; chr10:g.71793260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793260G>A , CM000672.2:g.71793260G>A	GRCh38
NC_000010.10:g.73553017G>A , CM000672.1:g.73553017G>A	GRCh37
NC_000010.9:g.73223023G>A	NCBI36
NG_008835.1:g.401314G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6332G>A MANE Select	ENSP00000224721.9:p.Gly2111Glu
ENST00000224721.10:c.6347G>A	ENSP00000224721.8:p.Gly2116Glu
ENST00000622827.4:c.6332G>A	ENSP00000483211.1:p.Gly2111Glu
NM_022124.5:c.6332G>A	NP_071407.4:p.Gly2111Glu
XM_006717940.2:c.6527G>A	XP_006718003.1:p.Gly2176Glu
XM_006717942.2:c.6461G>A	XP_006718005.1:p.Gly2154Glu
XM_011540039.1:c.6524G>A	XP_011538341.1:p.Gly2175Glu
XM_011540040.1:c.6521G>A	XP_011538342.1:p.Gly2174Glu
XM_011540041.1:c.6467G>A	XP_011538343.1:p.Gly2156Glu
XM_011540042.1:c.6527G>A	XP_011538344.1:p.Gly2176Glu
XM_011540043.1:c.6527G>A	XP_011538345.1:p.Gly2176Glu
XM_011540044.1:c.6392G>A	XP_011538346.1:p.Gly2131Glu
XM_011540045.1:c.6527G>A	XP_011538347.1:p.Gly2176Glu
XM_011540046.1:c.5987G>A	XP_011538348.1:p.Gly1996Glu
XM_011540047.1:c.5345G>A	XP_011538349.1:p.Gly1782Glu
XM_011540048.1:c.6527G>A	XP_011538350.1:p.Gly2176Glu
XM_011540049.1:c.6527G>A	XP_011538351.1:p.Gly2176Glu
XM_011540050.1:c.6527G>A	XP_011538352.1:p.Gly2176Glu
XM_011540051.1:c.6527G>A	XP_011538353.1:p.Gly2176Glu
XM_011540052.1:c.2855G>A	XP_011538354.1:p.Gly952Glu
XR_945796.1:n.6770G>A
NM_022124.6:c.6332G>A MANE Select	NP_071407.4:p.Gly2111Glu