Canonical Allele Identifier: CA5545949

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1157013
• ClinVar RCV Id: RCV001499901
• dbSNP Id: rs771799409
• ExAC: 10:73550073 C / T
• gnomAD v2: 10-73550073-C-T
• gnomAD v4: 10-71790316-C-T
• MyVariant Identifiers: chr10:g.73550073C>T (hg19) ; chr10:g.71790316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71790316C>T , CM000672.2:g.71790316C>T	GRCh38
NC_000010.10:g.73550073C>T , CM000672.1:g.73550073C>T	GRCh37
NC_000010.9:g.73220079C>T	NCBI36
NG_008835.1:g.398370C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.5952C>T MANE Select	ENSP00000224721.9:p.Pro1984=
ENST00000224721.10:c.5967C>T	ENSP00000224721.8:p.Pro1989=
ENST00000622827.4:c.5952C>T	ENSP00000483211.1:p.Pro1984=
NM_022124.5:c.5952C>T	NP_071407.4:p.Pro1984=
XM_006717940.2:c.6147C>T	XP_006718003.1:p.Pro2049=
XM_006717942.2:c.6081C>T	XP_006718005.1:p.Pro2027=
XM_011540039.1:c.6144C>T	XP_011538341.1:p.Pro2048=
XM_011540040.1:c.6141C>T	XP_011538342.1:p.Pro2047=
XM_011540041.1:c.6087C>T	XP_011538343.1:p.Pro2029=
XM_011540042.1:c.6147C>T	XP_011538344.1:p.Pro2049=
XM_011540043.1:c.6147C>T	XP_011538345.1:p.Pro2049=
XM_011540044.1:c.6012C>T	XP_011538346.1:p.Pro2004=
XM_011540045.1:c.6147C>T	XP_011538347.1:p.Pro2049=
XM_011540046.1:c.5607C>T	XP_011538348.1:p.Pro1869=
XM_011540047.1:c.4965C>T	XP_011538349.1:p.Pro1655=
XM_011540048.1:c.6147C>T	XP_011538350.1:p.Pro2049=
XM_011540049.1:c.6147C>T	XP_011538351.1:p.Pro2049=
XM_011540050.1:c.6147C>T	XP_011538352.1:p.Pro2049=
XM_011540051.1:c.6147C>T	XP_011538353.1:p.Pro2049=
XM_011540052.1:c.2475C>T	XP_011538354.1:p.Pro825=
XR_945796.1:n.6390C>T
NM_022124.6:c.5952C>T MANE Select	NP_071407.4:p.Pro1984=