Canonical Allele Identifier: CA377150545

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73550075T>C (hg19) ; chr10:g.71790318T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71790318T>C , CM000672.2:g.71790318T>C	GRCh38
NC_000010.10:g.73550075T>C , CM000672.1:g.73550075T>C	GRCh37
NC_000010.9:g.73220081T>C	NCBI36
NG_008835.1:g.398372T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.5954T>C MANE Select	ENSP00000224721.9:p.Ile1985Thr
ENST00000224721.10:c.5969T>C	ENSP00000224721.8:p.Ile1990Thr
ENST00000622827.4:c.5954T>C	ENSP00000483211.1:p.Ile1985Thr
NM_022124.5:c.5954T>C	NP_071407.4:p.Ile1985Thr
XM_006717940.2:c.6149T>C	XP_006718003.1:p.Ile2050Thr
XM_006717942.2:c.6083T>C	XP_006718005.1:p.Ile2028Thr
XM_011540039.1:c.6146T>C	XP_011538341.1:p.Ile2049Thr
XM_011540040.1:c.6143T>C	XP_011538342.1:p.Ile2048Thr
XM_011540041.1:c.6089T>C	XP_011538343.1:p.Ile2030Thr
XM_011540042.1:c.6149T>C	XP_011538344.1:p.Ile2050Thr
XM_011540043.1:c.6149T>C	XP_011538345.1:p.Ile2050Thr
XM_011540044.1:c.6014T>C	XP_011538346.1:p.Ile2005Thr
XM_011540045.1:c.6149T>C	XP_011538347.1:p.Ile2050Thr
XM_011540046.1:c.5609T>C	XP_011538348.1:p.Ile1870Thr
XM_011540047.1:c.4967T>C	XP_011538349.1:p.Ile1656Thr
XM_011540048.1:c.6149T>C	XP_011538350.1:p.Ile2050Thr
XM_011540049.1:c.6149T>C	XP_011538351.1:p.Ile2050Thr
XM_011540050.1:c.6149T>C	XP_011538352.1:p.Ile2050Thr
XM_011540051.1:c.6149T>C	XP_011538353.1:p.Ile2050Thr
XM_011540052.1:c.2477T>C	XP_011538354.1:p.Ile826Thr
XR_945796.1:n.6392T>C
NM_022124.6:c.5954T>C MANE Select	NP_071407.4:p.Ile1985Thr