Canonical Allele Identifier: CA377154920

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73553100T>C (hg19) ; chr10:g.71793343T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793343T>C , CM000672.2:g.71793343T>C	GRCh38
NC_000010.10:g.73553100T>C , CM000672.1:g.73553100T>C	GRCh37
NC_000010.9:g.73223106T>C	NCBI36
NG_008835.1:g.401397T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6415T>C MANE Select	ENSP00000224721.9:p.Ser2139Pro
ENST00000224721.10:c.6430T>C	ENSP00000224721.8:p.Ser2144Pro
ENST00000622827.4:c.6415T>C	ENSP00000483211.1:p.Ser2139Pro
NM_022124.5:c.6415T>C	NP_071407.4:p.Ser2139Pro
XM_006717940.2:c.6610T>C	XP_006718003.1:p.Ser2204Pro
XM_006717942.2:c.6544T>C	XP_006718005.1:p.Ser2182Pro
XM_011540039.1:c.6607T>C	XP_011538341.1:p.Ser2203Pro
XM_011540040.1:c.6604T>C	XP_011538342.1:p.Ser2202Pro
XM_011540041.1:c.6550T>C	XP_011538343.1:p.Ser2184Pro
XM_011540042.1:c.6577+33T>C	XP_011538344.1:n.6577+33T>C
XM_011540043.1:c.6610T>C	XP_011538345.1:p.Ser2204Pro
XM_011540044.1:c.6475T>C	XP_011538346.1:p.Ser2159Pro
XM_011540045.1:c.6610T>C	XP_011538347.1:p.Ser2204Pro
XM_011540046.1:c.6070T>C	XP_011538348.1:p.Ser2024Pro
XM_011540047.1:c.5428T>C	XP_011538349.1:p.Ser1810Pro
XM_011540048.1:c.6610T>C	XP_011538350.1:p.Ser2204Pro
XM_011540049.1:c.6610T>C	XP_011538351.1:p.Ser2204Pro
XM_011540050.1:c.6610T>C	XP_011538352.1:p.Ser2204Pro
XM_011540051.1:c.6610T>C	XP_011538353.1:p.Ser2204Pro
XM_011540052.1:c.2938T>C	XP_011538354.1:p.Ser980Pro
XR_945796.1:n.6853T>C
NM_022124.6:c.6415T>C MANE Select	NP_071407.4:p.Ser2139Pro