Canonical Allele Identifier: CA377160598

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71802972T>G , CM000672.2:g.71802972T>G	GRCh38
NC_000010.10:g.73562729T>G , CM000672.1:g.73562729T>G	GRCh37
NC_000010.9:g.73232735T>G	NCBI36
NG_008835.1:g.411026T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.7557T>G MANE Select	NP_071407.4:p.Tyr2519Ter
ENST00000224721.12:c.7557T>G MANE Select	ENSP00000224721.9:p.Tyr2519Ter
NM_001171933.1:c.837T>G	NP_001165404.1:p.Tyr279Ter
NM_001171934.1:c.837T>G	NP_001165405.1:p.Tyr279Ter
NM_022124.5:c.7557T>G	NP_071407.4:p.Tyr2519Ter
ENST00000224721.10:c.7572T>G	ENSP00000224721.8:p.Tyr2524Ter
ENST00000398788.4:c.837T>G	ENSP00000381768.3:p.Tyr279Ter
ENST00000475158.1:n.1093T>G
ENST00000619887.4:c.837T>G	ENSP00000478374.1:p.Tyr279Ter
ENST00000622827.4:c.7557T>G	ENSP00000483211.1:p.Tyr2519Ter
ENST00000642965.1:c.1490T>G	ENSP00000495222.1:n.1490T>G
ENST00000647092.1:c.1154T>G	ENSP00000495176.1:n.1154T>G
XM_006717940.2:c.7752T>G	XP_006718003.1:p.Tyr2584Ter
XM_006717942.2:c.7686T>G	XP_006718005.1:p.Tyr2562Ter
XM_011540039.1:c.7749T>G	XP_011538341.1:p.Tyr2583Ter
XM_011540040.1:c.7746T>G	XP_011538342.1:p.Tyr2582Ter
XM_011540041.1:c.7692T>G	XP_011538343.1:p.Tyr2564Ter
XM_011540042.1:c.7662T>G	XP_011538344.1:p.Tyr2554Ter
XM_011540043.1:c.7752T>G	XP_011538345.1:p.Tyr2584Ter
XM_011540044.1:c.7617T>G	XP_011538346.1:p.Tyr2539Ter
XM_011540045.1:c.7752T>G	XP_011538347.1:p.Tyr2584Ter
XM_011540046.1:c.7212T>G	XP_011538348.1:p.Tyr2404Ter
XM_011540047.1:c.6570T>G	XP_011538349.1:p.Tyr2190Ter
XM_011540052.1:c.4080T>G	XP_011538354.1:p.Tyr1360Ter