Canonical Allele Identifier: CA2499220352

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1145143
• ClinVar RCV Id: RCV001483914
• dbSNP Id: rs2132954006

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793423T>C , CM000672.2:g.71793423T>C	GRCh38
NC_000010.10:g.73553180T>C , CM000672.1:g.73553180T>C	GRCh37
NC_000010.9:g.73223186T>C	NCBI36
NG_008835.1:g.401477T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6495T>C MANE Select	ENSP00000224721.9:p.Asp2165=
ENST00000224721.10:c.6510T>C	ENSP00000224721.8:p.Asp2170=
ENST00000622827.4:c.6495T>C	ENSP00000483211.1:p.Asp2165=
NM_022124.5:c.6495T>C	NP_071407.4:p.Asp2165=
XM_006717940.2:c.6690T>C	XP_006718003.1:p.Asp2230=
XM_006717942.2:c.6624T>C	XP_006718005.1:p.Asp2208=
XM_011540039.1:c.6687T>C	XP_011538341.1:p.Asp2229=
XM_011540040.1:c.6684T>C	XP_011538342.1:p.Asp2228=
XM_011540041.1:c.6630T>C	XP_011538343.1:p.Asp2210=
XM_011540042.1:c.6600T>C	XP_011538344.1:p.Asp2200=
XM_011540043.1:c.6690T>C	XP_011538345.1:p.Asp2230=
XM_011540044.1:c.6555T>C	XP_011538346.1:p.Asp2185=
XM_011540045.1:c.6690T>C	XP_011538347.1:p.Asp2230=
XM_011540046.1:c.6150T>C	XP_011538348.1:p.Asp2050=
XM_011540047.1:c.5508T>C	XP_011538349.1:p.Asp1836=
XM_011540048.1:c.6690T>C	XP_011538350.1:p.Asp2230=
XM_011540049.1:c.6690T>C	XP_011538351.1:p.Asp2230=
XM_011540050.1:c.6690T>C	XP_011538352.1:p.Asp2230=
XM_011540051.1:c.6690T>C	XP_011538353.1:p.Asp2230=
XM_011540052.1:c.3018T>C	XP_011538354.1:p.Asp1006=
XR_945796.1:n.6933T>C
NM_022124.6:c.6495T>C MANE Select	NP_071407.4:p.Asp2165=