Canonical Allele Identifier: CA377154460

Gene: CDH23

Linked Data

• gnomAD v4: 10-71793274-T-C
• MyVariant Identifiers: chr10:g.73553031T>C (hg19) ; chr10:g.71793274T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793274T>C , CM000672.2:g.71793274T>C	GRCh38
NC_000010.10:g.73553031T>C , CM000672.1:g.73553031T>C	GRCh37
NC_000010.9:g.73223037T>C	NCBI36
NG_008835.1:g.401328T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6346T>C MANE Select	ENSP00000224721.9:p.Phe2116Leu
ENST00000224721.10:c.6361T>C	ENSP00000224721.8:p.Phe2121Leu
ENST00000622827.4:c.6346T>C	ENSP00000483211.1:p.Phe2116Leu
NM_022124.5:c.6346T>C	NP_071407.4:p.Phe2116Leu
XM_006717940.2:c.6541T>C	XP_006718003.1:p.Phe2181Leu
XM_006717942.2:c.6475T>C	XP_006718005.1:p.Phe2159Leu
XM_011540039.1:c.6538T>C	XP_011538341.1:p.Phe2180Leu
XM_011540040.1:c.6535T>C	XP_011538342.1:p.Phe2179Leu
XM_011540041.1:c.6481T>C	XP_011538343.1:p.Phe2161Leu
XM_011540042.1:c.6541T>C	XP_011538344.1:p.Phe2181Leu
XM_011540043.1:c.6541T>C	XP_011538345.1:p.Phe2181Leu
XM_011540044.1:c.6406T>C	XP_011538346.1:p.Phe2136Leu
XM_011540045.1:c.6541T>C	XP_011538347.1:p.Phe2181Leu
XM_011540046.1:c.6001T>C	XP_011538348.1:p.Phe2001Leu
XM_011540047.1:c.5359T>C	XP_011538349.1:p.Phe1787Leu
XM_011540048.1:c.6541T>C	XP_011538350.1:p.Phe2181Leu
XM_011540049.1:c.6541T>C	XP_011538351.1:p.Phe2181Leu
XM_011540050.1:c.6541T>C	XP_011538352.1:p.Phe2181Leu
XM_011540051.1:c.6541T>C	XP_011538353.1:p.Phe2181Leu
XM_011540052.1:c.2869T>C	XP_011538354.1:p.Phe957Leu
XR_945796.1:n.6784T>C
NM_022124.6:c.6346T>C MANE Select	NP_071407.4:p.Phe2116Leu