Canonical Allele Identifier: CA5544485

Gene: CDH23

Linked Data

• dbSNP Id: rs759228637
• ExAC: 10:73468862 C / A
• gnomAD v2: 10-73468862-C-A
• gnomAD v3: 10-71709105-C-A
• gnomAD v4: 10-71709105-C-A
• MyVariant Identifiers: chr10:g.73468862C>A (hg19) ; chr10:g.71709105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71709105C>A , CM000672.2:g.71709105C>A	GRCh38
NC_000010.10:g.73468862C>A , CM000672.1:g.73468862C>A	GRCh37
NC_000010.9:g.73138868C>A	NCBI36
NG_008835.1:g.317159C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.3114C>A MANE Select	ENSP00000224721.9:p.Asn1038Lys
ENST00000398809.9:c.3114C>A	ENSP00000381789.5:p.Asn1038Lys
ENST00000442677.4:c.3114C>A	ENSP00000388894.3:p.Asn1038Lys
ENST00000466757.8:c.2545C>A
ENST00000224721.10:c.3129C>A	ENSP00000224721.8:p.Asn1043Lys
ENST00000398809.8:c.3114C>A	ENSP00000381789.5:p.Asn1038Lys
ENST00000442677.3:c.1889C>A
ENST00000466757.7:c.2545C>A
ENST00000616684.4:c.3114C>A	ENSP00000482036.2:p.Asn1038Lys
ENST00000622827.4:c.3114C>A	ENSP00000483211.1:p.Asn1038Lys
NM_001171930.1:c.3114C>A	NP_001165401.1:p.Asn1038Lys
NM_022124.5:c.3114C>A	NP_071407.4:p.Asn1038Lys
XM_006717940.2:c.3309C>A	XP_006718003.1:p.Asn1103Lys
XM_006717942.2:c.3243C>A	XP_006718005.1:p.Asn1081Lys
XM_011540039.1:c.3309C>A	XP_011538341.1:p.Asn1103Lys
XM_011540040.1:c.3303C>A	XP_011538342.1:p.Asn1101Lys
XM_011540041.1:c.3249C>A	XP_011538343.1:p.Asn1083Lys
XM_011540042.1:c.3309C>A	XP_011538344.1:p.Asn1103Lys
XM_011540043.1:c.3309C>A	XP_011538345.1:p.Asn1103Lys
XM_011540044.1:c.3174C>A	XP_011538346.1:p.Asn1058Lys
XM_011540045.1:c.3309C>A	XP_011538347.1:p.Asn1103Lys
XM_011540046.1:c.2769C>A	XP_011538348.1:p.Asn923Lys
XM_011540047.1:c.2127C>A	XP_011538349.1:p.Asn709Lys
XM_011540048.1:c.3309C>A	XP_011538350.1:p.Asn1103Lys
XM_011540049.1:c.3309C>A	XP_011538351.1:p.Asn1103Lys
XM_011540050.1:c.3309C>A	XP_011538352.1:p.Asn1103Lys
XM_011540051.1:c.3309C>A	XP_011538353.1:p.Asn1103Lys
XM_011540053.1:c.3309C>A	XP_011538355.1:p.Asn1103Lys
XR_945796.1:n.3552C>A
NM_001171930.2:c.3114C>A	NP_001165401.1:p.Asn1038Lys
NM_022124.6:c.3114C>A MANE Select	NP_071407.4:p.Asn1038Lys