Canonical Allele Identifier: CA5545618

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71777890G>A , CM000672.2:g.71777890G>A	GRCh38
NC_000010.10:g.73537647G>A , CM000672.1:g.73537647G>A	GRCh37
NC_000010.9:g.73207653G>A	NCBI36
NG_008835.1:g.385944G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.5056G>A MANE Select	NP_071407.4:p.Asp1686Asn
ENST00000224721.12:c.5056G>A MANE Select	ENSP00000224721.9:p.Asp1686Asn
NM_022124.5:c.5056G>A	NP_071407.4:p.Asp1686Asn
ENST00000224721.10:c.5071G>A	ENSP00000224721.8:p.Asp1691Asn
ENST00000622827.4:c.5056G>A	ENSP00000483211.1:p.Asp1686Asn
XM_006717940.2:c.5251G>A	XP_006718003.1:p.Asp1751Asn
XM_006717942.2:c.5185G>A	XP_006718005.1:p.Asp1729Asn
XM_011540039.1:c.5248G>A	XP_011538341.1:p.Asp1750Asn
XM_011540040.1:c.5245G>A	XP_011538342.1:p.Asp1749Asn
XM_011540041.1:c.5191G>A	XP_011538343.1:p.Asp1731Asn
XM_011540042.1:c.5251G>A	XP_011538344.1:p.Asp1751Asn
XM_011540043.1:c.5251G>A	XP_011538345.1:p.Asp1751Asn
XM_011540044.1:c.5116G>A	XP_011538346.1:p.Asp1706Asn
XM_011540045.1:c.5251G>A	XP_011538347.1:p.Asp1751Asn
XM_011540046.1:c.4711G>A	XP_011538348.1:p.Asp1571Asn
XM_011540047.1:c.4069G>A	XP_011538349.1:p.Asp1357Asn
XM_011540048.1:c.5251G>A	XP_011538350.1:p.Asp1751Asn
XM_011540049.1:c.5251G>A	XP_011538351.1:p.Asp1751Asn
XM_011540050.1:c.5251G>A	XP_011538352.1:p.Asp1751Asn
XM_011540051.1:c.5251G>A	XP_011538353.1:p.Asp1751Asn
XM_011540052.1:c.1579G>A	XP_011538354.1:p.Asp527Asn
XM_011540053.1:c.5251G>A	XP_011538355.1:p.Asp1751Asn
XR_945796.1:n.5494G>A