Canonical Allele Identifier: CA377160408

Gene: CDH23

Linked Data

• dbSNP Id: rs373480195
• gnomAD v4: 10-71740853-G-T
• MyVariant Identifiers: chr10:g.73500610G>T (hg19) ; chr10:g.71740853G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740853G>T , CM000672.2:g.71740853G>T	GRCh38
NC_000010.10:g.73500610G>T , CM000672.1:g.73500610G>T	GRCh37
NC_000010.9:g.73170616G>T	NCBI36
NG_008835.1:g.348907G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.4520G>T MANE Select	ENSP00000224721.9:p.Arg1507Leu
ENST00000224721.10:c.4535G>T	ENSP00000224721.8:p.Arg1512Leu
ENST00000398792.3:n.1209G>T
ENST00000622827.4:c.4520G>T	ENSP00000483211.1:p.Arg1507Leu
NM_022124.5:c.4520G>T	NP_071407.4:p.Arg1507Leu
XM_006717940.2:c.4715G>T	XP_006718003.1:p.Arg1572Leu
XM_006717942.2:c.4649G>T	XP_006718005.1:p.Arg1550Leu
XM_011540039.1:c.4712G>T	XP_011538341.1:p.Arg1571Leu
XM_011540040.1:c.4709G>T	XP_011538342.1:p.Arg1570Leu
XM_011540041.1:c.4655G>T	XP_011538343.1:p.Arg1552Leu
XM_011540042.1:c.4715G>T	XP_011538344.1:p.Arg1572Leu
XM_011540043.1:c.4715G>T	XP_011538345.1:p.Arg1572Leu
XM_011540044.1:c.4580G>T	XP_011538346.1:p.Arg1527Leu
XM_011540045.1:c.4715G>T	XP_011538347.1:p.Arg1572Leu
XM_011540046.1:c.4175G>T	XP_011538348.1:p.Arg1392Leu
XM_011540047.1:c.3533G>T	XP_011538349.1:p.Arg1178Leu
XM_011540048.1:c.4715G>T	XP_011538350.1:p.Arg1572Leu
XM_011540049.1:c.4715G>T	XP_011538351.1:p.Arg1572Leu
XM_011540050.1:c.4715G>T	XP_011538352.1:p.Arg1572Leu
XM_011540051.1:c.4715G>T	XP_011538353.1:p.Arg1572Leu
XM_011540052.1:c.1043G>T	XP_011538354.1:p.Arg348Leu
XM_011540053.1:c.4715G>T	XP_011538355.1:p.Arg1572Leu
XR_945796.1:n.4958G>T
NM_022124.6:c.4520G>T MANE Select	NP_071407.4:p.Arg1507Leu