Canonical Allele Identifier: CA377154926

Gene: CDH23

Linked Data

• dbSNP Id: rs1841313786
• MyVariant Identifiers: chr10:g.73553101C>G (hg19) ; chr10:g.71793344C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793344C>G , CM000672.2:g.71793344C>G	GRCh38
NC_000010.10:g.73553101C>G , CM000672.1:g.73553101C>G	GRCh37
NC_000010.9:g.73223107C>G	NCBI36
NG_008835.1:g.401398C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6416C>G MANE Select	ENSP00000224721.9:p.Ser2139Cys
ENST00000224721.10:c.6431C>G	ENSP00000224721.8:p.Ser2144Cys
ENST00000622827.4:c.6416C>G	ENSP00000483211.1:p.Ser2139Cys
NM_022124.5:c.6416C>G	NP_071407.4:p.Ser2139Cys
XM_006717940.2:c.6611C>G	XP_006718003.1:p.Ser2204Cys
XM_006717942.2:c.6545C>G	XP_006718005.1:p.Ser2182Cys
XM_011540039.1:c.6608C>G	XP_011538341.1:p.Ser2203Cys
XM_011540040.1:c.6605C>G	XP_011538342.1:p.Ser2202Cys
XM_011540041.1:c.6551C>G	XP_011538343.1:p.Ser2184Cys
XM_011540042.1:c.6577+34C>G	XP_011538344.1:n.6577+34C>G
XM_011540043.1:c.6611C>G	XP_011538345.1:p.Ser2204Cys
XM_011540044.1:c.6476C>G	XP_011538346.1:p.Ser2159Cys
XM_011540045.1:c.6611C>G	XP_011538347.1:p.Ser2204Cys
XM_011540046.1:c.6071C>G	XP_011538348.1:p.Ser2024Cys
XM_011540047.1:c.5429C>G	XP_011538349.1:p.Ser1810Cys
XM_011540048.1:c.6611C>G	XP_011538350.1:p.Ser2204Cys
XM_011540049.1:c.6611C>G	XP_011538351.1:p.Ser2204Cys
XM_011540050.1:c.6611C>G	XP_011538352.1:p.Ser2204Cys
XM_011540051.1:c.6611C>G	XP_011538353.1:p.Ser2204Cys
XM_011540052.1:c.2939C>G	XP_011538354.1:p.Ser980Cys
XR_945796.1:n.6854C>G
NM_022124.6:c.6416C>G MANE Select	NP_071407.4:p.Ser2139Cys