Canonical Allele Identifier: CA377160487

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1312570
• ClinVar RCV Id: RCV001761458
• dbSNP Id: rs1236813363
• MyVariant Identifiers: chr10:g.73500628T>C (hg19) ; chr10:g.71740871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740871T>C , CM000672.2:g.71740871T>C	GRCh38
NC_000010.10:g.73500628T>C , CM000672.1:g.73500628T>C	GRCh37
NC_000010.9:g.73170634T>C	NCBI36
NG_008835.1:g.348925T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.4538T>C MANE Select	ENSP00000224721.9:p.Leu1513Pro
ENST00000224721.10:c.4553T>C	ENSP00000224721.8:p.Leu1518Pro
ENST00000398792.3:n.1227T>C
ENST00000622827.4:c.4538T>C	ENSP00000483211.1:p.Leu1513Pro
NM_022124.5:c.4538T>C	NP_071407.4:p.Leu1513Pro
XM_006717940.2:c.4733T>C	XP_006718003.1:p.Leu1578Pro
XM_006717942.2:c.4667T>C	XP_006718005.1:p.Leu1556Pro
XM_011540039.1:c.4730T>C	XP_011538341.1:p.Leu1577Pro
XM_011540040.1:c.4727T>C	XP_011538342.1:p.Leu1576Pro
XM_011540041.1:c.4673T>C	XP_011538343.1:p.Leu1558Pro
XM_011540042.1:c.4733T>C	XP_011538344.1:p.Leu1578Pro
XM_011540043.1:c.4733T>C	XP_011538345.1:p.Leu1578Pro
XM_011540044.1:c.4598T>C	XP_011538346.1:p.Leu1533Pro
XM_011540045.1:c.4733T>C	XP_011538347.1:p.Leu1578Pro
XM_011540046.1:c.4193T>C	XP_011538348.1:p.Leu1398Pro
XM_011540047.1:c.3551T>C	XP_011538349.1:p.Leu1184Pro
XM_011540048.1:c.4733T>C	XP_011538350.1:p.Leu1578Pro
XM_011540049.1:c.4733T>C	XP_011538351.1:p.Leu1578Pro
XM_011540050.1:c.4733T>C	XP_011538352.1:p.Leu1578Pro
XM_011540051.1:c.4733T>C	XP_011538353.1:p.Leu1578Pro
XM_011540052.1:c.1061T>C	XP_011538354.1:p.Leu354Pro
XM_011540053.1:c.4733T>C	XP_011538355.1:p.Leu1578Pro
XR_945796.1:n.4976T>C
NM_022124.6:c.4538T>C MANE Select	NP_071407.4:p.Leu1513Pro