Canonical Allele Identifier: CA377131728

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73567480T>G (hg19) ; chr10:g.71807723T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807723T>G , CM000672.2:g.71807723T>G	GRCh38
NC_000010.10:g.73567480T>G , CM000672.1:g.73567480T>G	GRCh37
NC_000010.9:g.73237486T>G	NCBI36
NG_008835.1:g.415777T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8516T>G MANE Select	ENSP00000224721.9:p.Ile2839Ser
ENST00000642965.1:c.2449T>G	ENSP00000495222.1:n.2449T>G
ENST00000647092.1:c.2113T>G	ENSP00000495176.1:n.2113T>G
ENST00000224721.10:c.8531T>G	ENSP00000224721.8:p.Ile2844Ser
ENST00000398788.4:c.1796T>G	ENSP00000381768.3:p.Ile599Ser
ENST00000475158.1:n.2052T>G
ENST00000619887.4:c.1796T>G	ENSP00000478374.1:p.Ile599Ser
ENST00000622827.4:c.8516T>G	ENSP00000483211.1:p.Ile2839Ser
NM_001171933.1:c.1796T>G	NP_001165404.1:p.Ile599Ser
NM_001171934.1:c.1796T>G	NP_001165405.1:p.Ile599Ser
NM_022124.5:c.8516T>G	NP_071407.4:p.Ile2839Ser
XM_006717940.2:c.8711T>G	XP_006718003.1:p.Ile2904Ser
XM_006717942.2:c.8645T>G	XP_006718005.1:p.Ile2882Ser
XM_011540039.1:c.8708T>G	XP_011538341.1:p.Ile2903Ser
XM_011540040.1:c.8705T>G	XP_011538342.1:p.Ile2902Ser
XM_011540041.1:c.8651T>G	XP_011538343.1:p.Ile2884Ser
XM_011540042.1:c.8621T>G	XP_011538344.1:p.Ile2874Ser
XM_011540043.1:c.8711T>G	XP_011538345.1:p.Ile2904Ser
XM_011540044.1:c.8576T>G	XP_011538346.1:p.Ile2859Ser
XM_011540045.1:c.8711T>G	XP_011538347.1:p.Ile2904Ser
XM_011540046.1:c.8171T>G	XP_011538348.1:p.Ile2724Ser
XM_011540047.1:c.7529T>G	XP_011538349.1:p.Ile2510Ser
XM_011540052.1:c.5039T>G	XP_011538354.1:p.Ile1680Ser
NM_022124.6:c.8516T>G MANE Select	NP_071407.4:p.Ile2839Ser