Canonical Allele Identifier: CA377159422

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73559324T>G (hg19) ; chr10:g.71799567T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799567T>G , CM000672.2:g.71799567T>G	GRCh38
NC_000010.10:g.73559324T>G , CM000672.1:g.73559324T>G	GRCh37
NC_000010.9:g.73229330T>G	NCBI36
NG_008835.1:g.407621T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7300T>G MANE Select	ENSP00000224721.9:p.Phe2434Val
ENST00000642965.1:c.1233T>G	ENSP00000495222.1:n.1233T>G
ENST00000647092.1:c.897T>G	ENSP00000495176.1:n.897T>G
ENST00000224721.10:c.7315T>G	ENSP00000224721.8:p.Phe2439Val
ENST00000398788.4:c.580T>G	ENSP00000381768.3:p.Phe194Val
ENST00000475158.1:n.836T>G
ENST00000619887.4:c.580T>G	ENSP00000478374.1:p.Phe194Val
ENST00000622827.4:c.7300T>G	ENSP00000483211.1:p.Phe2434Val
NM_001171933.1:c.580T>G	NP_001165404.1:p.Phe194Val
NM_001171934.1:c.580T>G	NP_001165405.1:p.Phe194Val
NM_022124.5:c.7300T>G	NP_071407.4:p.Phe2434Val
XM_006717940.2:c.7495T>G	XP_006718003.1:p.Phe2499Val
XM_006717942.2:c.7429T>G	XP_006718005.1:p.Phe2477Val
XM_011540039.1:c.7492T>G	XP_011538341.1:p.Phe2498Val
XM_011540040.1:c.7489T>G	XP_011538342.1:p.Phe2497Val
XM_011540041.1:c.7435T>G	XP_011538343.1:p.Phe2479Val
XM_011540042.1:c.7405T>G	XP_011538344.1:p.Phe2469Val
XM_011540043.1:c.7495T>G	XP_011538345.1:p.Phe2499Val
XM_011540044.1:c.7360T>G	XP_011538346.1:p.Phe2454Val
XM_011540045.1:c.7495T>G	XP_011538347.1:p.Phe2499Val
XM_011540046.1:c.6955T>G	XP_011538348.1:p.Phe2319Val
XM_011540047.1:c.6313T>G	XP_011538349.1:p.Phe2105Val
XM_011540052.1:c.3823T>G	XP_011538354.1:p.Phe1275Val
NM_022124.6:c.7300T>G MANE Select	NP_071407.4:p.Phe2434Val