Canonical Allele Identifier: CA377159318

Gene: CDH23

Linked Data

• dbSNP Id: rs1841497964
• gnomAD v4: 10-71799544-C-T
• MyVariant Identifiers: chr10:g.73559301C>T (hg19) ; chr10:g.71799544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799544C>T , CM000672.2:g.71799544C>T	GRCh38
NC_000010.10:g.73559301C>T , CM000672.1:g.73559301C>T	GRCh37
NC_000010.9:g.73229307C>T	NCBI36
NG_008835.1:g.407598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7277C>T MANE Select	ENSP00000224721.9:p.Ala2426Val
ENST00000642965.1:c.1210C>T	ENSP00000495222.1:n.1210C>T
ENST00000647092.1:c.874C>T	ENSP00000495176.1:n.874C>T
ENST00000224721.10:c.7292C>T	ENSP00000224721.8:p.Ala2431Val
ENST00000398788.4:c.557C>T	ENSP00000381768.3:p.Ala186Val
ENST00000475158.1:n.813C>T
ENST00000619887.4:c.557C>T	ENSP00000478374.1:p.Ala186Val
ENST00000622827.4:c.7277C>T	ENSP00000483211.1:p.Ala2426Val
NM_001171933.1:c.557C>T	NP_001165404.1:p.Ala186Val
NM_001171934.1:c.557C>T	NP_001165405.1:p.Ala186Val
NM_022124.5:c.7277C>T	NP_071407.4:p.Ala2426Val
XM_006717940.2:c.7472C>T	XP_006718003.1:p.Ala2491Val
XM_006717942.2:c.7406C>T	XP_006718005.1:p.Ala2469Val
XM_011540039.1:c.7469C>T	XP_011538341.1:p.Ala2490Val
XM_011540040.1:c.7466C>T	XP_011538342.1:p.Ala2489Val
XM_011540041.1:c.7412C>T	XP_011538343.1:p.Ala2471Val
XM_011540042.1:c.7382C>T	XP_011538344.1:p.Ala2461Val
XM_011540043.1:c.7472C>T	XP_011538345.1:p.Ala2491Val
XM_011540044.1:c.7337C>T	XP_011538346.1:p.Ala2446Val
XM_011540045.1:c.7472C>T	XP_011538347.1:p.Ala2491Val
XM_011540046.1:c.6932C>T	XP_011538348.1:p.Ala2311Val
XM_011540047.1:c.6290C>T	XP_011538349.1:p.Ala2097Val
XM_011540052.1:c.3800C>T	XP_011538354.1:p.Ala1267Val
NM_022124.6:c.7277C>T MANE Select	NP_071407.4:p.Ala2426Val