Canonical Allele Identifier: CA377154896

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73553097G>A (hg19) ; chr10:g.71793340G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793340G>A , CM000672.2:g.71793340G>A	GRCh38
NC_000010.10:g.73553097G>A , CM000672.1:g.73553097G>A	GRCh37
NC_000010.9:g.73223103G>A	NCBI36
NG_008835.1:g.401394G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6412G>A MANE Select	ENSP00000224721.9:p.Glu2138Lys
ENST00000224721.10:c.6427G>A	ENSP00000224721.8:p.Glu2143Lys
ENST00000622827.4:c.6412G>A	ENSP00000483211.1:p.Glu2138Lys
NM_022124.5:c.6412G>A	NP_071407.4:p.Glu2138Lys
XM_006717940.2:c.6607G>A	XP_006718003.1:p.Glu2203Lys
XM_006717942.2:c.6541G>A	XP_006718005.1:p.Glu2181Lys
XM_011540039.1:c.6604G>A	XP_011538341.1:p.Glu2202Lys
XM_011540040.1:c.6601G>A	XP_011538342.1:p.Glu2201Lys
XM_011540041.1:c.6547G>A	XP_011538343.1:p.Glu2183Lys
XM_011540042.1:c.6577+30G>A	XP_011538344.1:n.6577+30G>A
XM_011540043.1:c.6607G>A	XP_011538345.1:p.Glu2203Lys
XM_011540044.1:c.6472G>A	XP_011538346.1:p.Glu2158Lys
XM_011540045.1:c.6607G>A	XP_011538347.1:p.Glu2203Lys
XM_011540046.1:c.6067G>A	XP_011538348.1:p.Glu2023Lys
XM_011540047.1:c.5425G>A	XP_011538349.1:p.Glu1809Lys
XM_011540048.1:c.6607G>A	XP_011538350.1:p.Glu2203Lys
XM_011540049.1:c.6607G>A	XP_011538351.1:p.Glu2203Lys
XM_011540050.1:c.6607G>A	XP_011538352.1:p.Glu2203Lys
XM_011540051.1:c.6607G>A	XP_011538353.1:p.Glu2203Lys
XM_011540052.1:c.2935G>A	XP_011538354.1:p.Glu979Lys
XR_945796.1:n.6850G>A
NM_022124.6:c.6412G>A MANE Select	NP_071407.4:p.Glu2138Lys