Canonical Allele Identifier: CA377154334

Gene: CDH23

Linked Data

• dbSNP Id: rs747001273
• gnomAD v4: 10-71793256-G-C
• MyVariant Identifiers: chr10:g.73553013G>C (hg19) ; chr10:g.71793256G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793256G>C , CM000672.2:g.71793256G>C	GRCh38
NC_000010.10:g.73553013G>C , CM000672.1:g.73553013G>C	GRCh37
NC_000010.9:g.73223019G>C	NCBI36
NG_008835.1:g.401310G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6328G>C MANE Select	ENSP00000224721.9:p.Ala2110Pro
ENST00000224721.10:c.6343G>C	ENSP00000224721.8:p.Ala2115Pro
ENST00000622827.4:c.6328G>C	ENSP00000483211.1:p.Ala2110Pro
NM_022124.5:c.6328G>C	NP_071407.4:p.Ala2110Pro
XM_006717940.2:c.6523G>C	XP_006718003.1:p.Ala2175Pro
XM_006717942.2:c.6457G>C	XP_006718005.1:p.Ala2153Pro
XM_011540039.1:c.6520G>C	XP_011538341.1:p.Ala2174Pro
XM_011540040.1:c.6517G>C	XP_011538342.1:p.Ala2173Pro
XM_011540041.1:c.6463G>C	XP_011538343.1:p.Ala2155Pro
XM_011540042.1:c.6523G>C	XP_011538344.1:p.Ala2175Pro
XM_011540043.1:c.6523G>C	XP_011538345.1:p.Ala2175Pro
XM_011540044.1:c.6388G>C	XP_011538346.1:p.Ala2130Pro
XM_011540045.1:c.6523G>C	XP_011538347.1:p.Ala2175Pro
XM_011540046.1:c.5983G>C	XP_011538348.1:p.Ala1995Pro
XM_011540047.1:c.5341G>C	XP_011538349.1:p.Ala1781Pro
XM_011540048.1:c.6523G>C	XP_011538350.1:p.Ala2175Pro
XM_011540049.1:c.6523G>C	XP_011538351.1:p.Ala2175Pro
XM_011540050.1:c.6523G>C	XP_011538352.1:p.Ala2175Pro
XM_011540051.1:c.6523G>C	XP_011538353.1:p.Ala2175Pro
XM_011540052.1:c.2851G>C	XP_011538354.1:p.Ala951Pro
XR_945796.1:n.6766G>C
NM_022124.6:c.6328G>C MANE Select	NP_071407.4:p.Ala2110Pro