Canonical Allele Identifier: CA5546359

Gene: CDH23

Linked Data

• ClinVar Variation Id: 300455
• ClinVar RCV Id: RCV000298796 ; RCV000402836 ; RCV004529523 ; RCV003698760
• dbSNP Id: rs370000472
• ExAC: 10:73560524 C / A
• gnomAD v2: 10-73560524-C-A
• gnomAD v4: 10-71800767-C-A
• MyVariant Identifiers: chr10:g.73560524C>A (hg19) ; chr10:g.71800767C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800767C>A , CM000672.2:g.71800767C>A	GRCh38
NC_000010.10:g.73560524C>A , CM000672.1:g.73560524C>A	GRCh37
NC_000010.9:g.73230530C>A	NCBI36
NG_008835.1:g.408821C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7482+12C>A MANE Select	ENSP00000224721.9:n.7482+12C>A
ENST00000642965.1:c.1415+12C>A	ENSP00000495222.1:n.1415+12C>A
ENST00000647092.1:c.1079+12C>A	ENSP00000495176.1:n.1079+12C>A
ENST00000224721.10:c.7497+12C>A	ENSP00000224721.8:n.7497+12C>A
ENST00000398788.4:c.762+12C>A	ENSP00000381768.3:n.762+12C>A
ENST00000475158.1:n.1018+12C>A
ENST00000619887.4:c.762+12C>A	ENSP00000478374.1:n.762+12C>A
ENST00000622827.4:c.7482+12C>A	ENSP00000483211.1:n.7482+12C>A
NM_001171933.1:c.762+12C>A	NP_001165404.1:n.762+12C>A
NM_001171934.1:c.762+12C>A	NP_001165405.1:n.762+12C>A
NM_022124.5:c.7482+12C>A	NP_071407.4:n.7482+12C>A
XM_006717940.2:c.7677+12C>A	XP_006718003.1:n.7677+12C>A
XM_006717942.2:c.7611+12C>A	XP_006718005.1:n.7611+12C>A
XM_011540039.1:c.7674+12C>A	XP_011538341.1:n.7674+12C>A
XM_011540040.1:c.7671+12C>A	XP_011538342.1:n.7671+12C>A
XM_011540041.1:c.7617+12C>A	XP_011538343.1:n.7617+12C>A
XM_011540042.1:c.7587+12C>A	XP_011538344.1:n.7587+12C>A
XM_011540043.1:c.7677+12C>A	XP_011538345.1:n.7677+12C>A
XM_011540044.1:c.7542+12C>A	XP_011538346.1:n.7542+12C>A
XM_011540045.1:c.7677+12C>A	XP_011538347.1:n.7677+12C>A
XM_011540046.1:c.7137+12C>A	XP_011538348.1:n.7137+12C>A
XM_011540047.1:c.6495+12C>A	XP_011538349.1:n.6495+12C>A
XM_011540052.1:c.4005+12C>A	XP_011538354.1:n.4005+12C>A
NM_022124.6:c.7482+12C>A MANE Select	NP_071407.4:n.7482+12C>A