Canonical Allele Identifier: CA377159388

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73559315T>C (hg19) ; chr10:g.71799558T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799558T>C , CM000672.2:g.71799558T>C	GRCh38
NC_000010.10:g.73559315T>C , CM000672.1:g.73559315T>C	GRCh37
NC_000010.9:g.73229321T>C	NCBI36
NG_008835.1:g.407612T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7291T>C MANE Select	ENSP00000224721.9:p.Ser2431Pro
ENST00000642965.1:c.1224T>C	ENSP00000495222.1:n.1224T>C
ENST00000647092.1:c.888T>C	ENSP00000495176.1:n.888T>C
ENST00000224721.10:c.7306T>C	ENSP00000224721.8:p.Ser2436Pro
ENST00000398788.4:c.571T>C	ENSP00000381768.3:p.Ser191Pro
ENST00000475158.1:n.827T>C
ENST00000619887.4:c.571T>C	ENSP00000478374.1:p.Ser191Pro
ENST00000622827.4:c.7291T>C	ENSP00000483211.1:p.Ser2431Pro
NM_001171933.1:c.571T>C	NP_001165404.1:p.Ser191Pro
NM_001171934.1:c.571T>C	NP_001165405.1:p.Ser191Pro
NM_022124.5:c.7291T>C	NP_071407.4:p.Ser2431Pro
XM_006717940.2:c.7486T>C	XP_006718003.1:p.Ser2496Pro
XM_006717942.2:c.7420T>C	XP_006718005.1:p.Ser2474Pro
XM_011540039.1:c.7483T>C	XP_011538341.1:p.Ser2495Pro
XM_011540040.1:c.7480T>C	XP_011538342.1:p.Ser2494Pro
XM_011540041.1:c.7426T>C	XP_011538343.1:p.Ser2476Pro
XM_011540042.1:c.7396T>C	XP_011538344.1:p.Ser2466Pro
XM_011540043.1:c.7486T>C	XP_011538345.1:p.Ser2496Pro
XM_011540044.1:c.7351T>C	XP_011538346.1:p.Ser2451Pro
XM_011540045.1:c.7486T>C	XP_011538347.1:p.Ser2496Pro
XM_011540046.1:c.6946T>C	XP_011538348.1:p.Ser2316Pro
XM_011540047.1:c.6304T>C	XP_011538349.1:p.Ser2102Pro
XM_011540052.1:c.3814T>C	XP_011538354.1:p.Ser1272Pro
NM_022124.6:c.7291T>C MANE Select	NP_071407.4:p.Ser2431Pro