Canonical Allele Identifier: CA209436081

Gene: CDH23

Linked Data

• dbSNP Id: rs376039927
• gnomAD v4: 10-71687683-G-T
• MyVariant Identifiers: chr10:g.73447440G>T (hg19) ; chr10:g.71687683G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71687683G>T , CM000672.2:g.71687683G>T	GRCh38
NC_000010.10:g.73447440G>T , CM000672.1:g.73447440G>T	GRCh37
NC_000010.9:g.73117446G>T	NCBI36
NG_008835.1:g.295737G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.2023G>T MANE Select	ENSP00000224721.9:p.Ala675Ser
ENST00000398809.9:c.2023G>T	ENSP00000381789.5:p.Ala675Ser
ENST00000442677.4:c.2023G>T	ENSP00000388894.3:p.Ala675Ser
ENST00000466757.8:c.1454G>T
ENST00000224721.10:c.2038G>T	ENSP00000224721.8:p.Ala680Ser
ENST00000299366.11:c.2023G>T	ENSP00000299366.8:p.Ala675Ser
ENST00000398809.8:c.2023G>T	ENSP00000381789.5:p.Ala675Ser
ENST00000442677.3:c.798G>T
ENST00000466757.7:c.1454G>T
ENST00000616684.4:c.2023G>T	ENSP00000482036.2:p.Ala675Ser
ENST00000622827.4:c.2023G>T	ENSP00000483211.1:p.Ala675Ser
NM_001171930.1:c.2023G>T	NP_001165401.1:p.Ala675Ser
NM_001171931.1:c.2023G>T	NP_001165402.1:p.Ala675Ser
NM_022124.5:c.2023G>T	NP_071407.4:p.Ala675Ser
XM_006717940.2:c.2218G>T	XP_006718003.1:p.Ala740Ser
XM_006717942.2:c.2152G>T	XP_006718005.1:p.Ala718Ser
XM_011540039.1:c.2218G>T	XP_011538341.1:p.Ala740Ser
XM_011540040.1:c.2212G>T	XP_011538342.1:p.Ala738Ser
XM_011540041.1:c.2158G>T	XP_011538343.1:p.Ala720Ser
XM_011540042.1:c.2218G>T	XP_011538344.1:p.Ala740Ser
XM_011540043.1:c.2218G>T	XP_011538345.1:p.Ala740Ser
XM_011540044.1:c.2083G>T	XP_011538346.1:p.Ala695Ser
XM_011540045.1:c.2218G>T	XP_011538347.1:p.Ala740Ser
XM_011540046.1:c.1678G>T	XP_011538348.1:p.Ala560Ser
XM_011540047.1:c.1036G>T	XP_011538349.1:p.Ala346Ser
XM_011540048.1:c.2218G>T	XP_011538350.1:p.Ala740Ser
XM_011540049.1:c.2218G>T	XP_011538351.1:p.Ala740Ser
XM_011540050.1:c.2218G>T	XP_011538352.1:p.Ala740Ser
XM_011540051.1:c.2218G>T	XP_011538353.1:p.Ala740Ser
XM_011540053.1:c.2218G>T	XP_011538355.1:p.Ala740Ser
XM_011540054.1:c.2158G>T	XP_011538356.1:p.Ala720Ser
XR_945796.1:n.2461G>T
NM_001171930.2:c.2023G>T	NP_001165401.1:p.Ala675Ser
NM_001171931.2:c.2023G>T	NP_001165402.1:p.Ala675Ser
NM_022124.6:c.2023G>T MANE Select	NP_071407.4:p.Ala675Ser