Canonical Allele Identifier: CA377154937

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1357423
• ClinVar RCV Id: RCV001863814
• dbSNP Id: rs1158798755
• gnomAD v4: 10-71793346-T-C
• MyVariant Identifiers: chr10:g.73553103T>C (hg19) ; chr10:g.71793346T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793346T>C , CM000672.2:g.71793346T>C	GRCh38
NC_000010.10:g.73553103T>C , CM000672.1:g.73553103T>C	GRCh37
NC_000010.9:g.73223109T>C	NCBI36
NG_008835.1:g.401400T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6418T>C MANE Select	ENSP00000224721.9:p.Tyr2140His
ENST00000224721.10:c.6433T>C	ENSP00000224721.8:p.Tyr2145His
ENST00000622827.4:c.6418T>C	ENSP00000483211.1:p.Tyr2140His
NM_022124.5:c.6418T>C	NP_071407.4:p.Tyr2140His
XM_006717940.2:c.6613T>C	XP_006718003.1:p.Tyr2205His
XM_006717942.2:c.6547T>C	XP_006718005.1:p.Tyr2183His
XM_011540039.1:c.6610T>C	XP_011538341.1:p.Tyr2204His
XM_011540040.1:c.6607T>C	XP_011538342.1:p.Tyr2203His
XM_011540041.1:c.6553T>C	XP_011538343.1:p.Tyr2185His
XM_011540042.1:c.6577+36T>C	XP_011538344.1:n.6577+36T>C
XM_011540043.1:c.6613T>C	XP_011538345.1:p.Tyr2205His
XM_011540044.1:c.6478T>C	XP_011538346.1:p.Tyr2160His
XM_011540045.1:c.6613T>C	XP_011538347.1:p.Tyr2205His
XM_011540046.1:c.6073T>C	XP_011538348.1:p.Tyr2025His
XM_011540047.1:c.5431T>C	XP_011538349.1:p.Tyr1811His
XM_011540048.1:c.6613T>C	XP_011538350.1:p.Tyr2205His
XM_011540049.1:c.6613T>C	XP_011538351.1:p.Tyr2205His
XM_011540050.1:c.6613T>C	XP_011538352.1:p.Tyr2205His
XM_011540051.1:c.6613T>C	XP_011538353.1:p.Tyr2205His
XM_011540052.1:c.2941T>C	XP_011538354.1:p.Tyr981His
XR_945796.1:n.6856T>C
NM_022124.6:c.6418T>C MANE Select	NP_071407.4:p.Tyr2140His