Canonical Allele Identifier: CA377159330

Gene: CDH23

Linked Data

• gnomAD v4: 10-71799547-C-G
• MyVariant Identifiers: chr10:g.73559304C>G (hg19) ; chr10:g.71799547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799547C>G , CM000672.2:g.71799547C>G	GRCh38
NC_000010.10:g.73559304C>G , CM000672.1:g.73559304C>G	GRCh37
NC_000010.9:g.73229310C>G	NCBI36
NG_008835.1:g.407601C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7280C>G MANE Select	ENSP00000224721.9:p.Thr2427Ser
ENST00000642965.1:c.1213C>G	ENSP00000495222.1:n.1213C>G
ENST00000647092.1:c.877C>G	ENSP00000495176.1:n.877C>G
ENST00000224721.10:c.7295C>G	ENSP00000224721.8:p.Thr2432Ser
ENST00000398788.4:c.560C>G	ENSP00000381768.3:p.Thr187Ser
ENST00000475158.1:n.816C>G
ENST00000619887.4:c.560C>G	ENSP00000478374.1:p.Thr187Ser
ENST00000622827.4:c.7280C>G	ENSP00000483211.1:p.Thr2427Ser
NM_001171933.1:c.560C>G	NP_001165404.1:p.Thr187Ser
NM_001171934.1:c.560C>G	NP_001165405.1:p.Thr187Ser
NM_022124.5:c.7280C>G	NP_071407.4:p.Thr2427Ser
XM_006717940.2:c.7475C>G	XP_006718003.1:p.Thr2492Ser
XM_006717942.2:c.7409C>G	XP_006718005.1:p.Thr2470Ser
XM_011540039.1:c.7472C>G	XP_011538341.1:p.Thr2491Ser
XM_011540040.1:c.7469C>G	XP_011538342.1:p.Thr2490Ser
XM_011540041.1:c.7415C>G	XP_011538343.1:p.Thr2472Ser
XM_011540042.1:c.7385C>G	XP_011538344.1:p.Thr2462Ser
XM_011540043.1:c.7475C>G	XP_011538345.1:p.Thr2492Ser
XM_011540044.1:c.7340C>G	XP_011538346.1:p.Thr2447Ser
XM_011540045.1:c.7475C>G	XP_011538347.1:p.Thr2492Ser
XM_011540046.1:c.6935C>G	XP_011538348.1:p.Thr2312Ser
XM_011540047.1:c.6293C>G	XP_011538349.1:p.Thr2098Ser
XM_011540052.1:c.3803C>G	XP_011538354.1:p.Thr1268Ser
NM_022124.6:c.7280C>G MANE Select	NP_071407.4:p.Thr2427Ser