Canonical Allele Identifier: CA1918874336
Community Standard Title: NM_022124.6(CDH23):c.6442G= (p.Asp2148=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71793370G= , CM000672.2:g.71793370G= GRCh38
NC_000010.10:g.73553127G= , CM000672.1:g.73553127G= GRCh37
NC_000010.9:g.73223133G= NCBI36
NG_008835.1:g.401424G=

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.6442G= MANE Select NP_071407.4:p.Asp2148=
ENST00000224721.12:c.6442G= MANE Select ENSP00000224721.9:p.Asp2148=
NM_022124.5:c.6442G= NP_071407.4:p.Asp2148=
ENST00000224721.10:c.6457G= ENSP00000224721.8:p.Asp2153=
ENST00000622827.4:c.6442G= ENSP00000483211.1:p.Asp2148=
XM_006717940.2:c.6637G= XP_006718003.1:p.Asp2213=
XM_006717942.2:c.6571G= XP_006718005.1:p.Asp2191=
XM_011540039.1:c.6634G= XP_011538341.1:p.Asp2212=
XM_011540040.1:c.6631G= XP_011538342.1:p.Asp2211=
XM_011540041.1:c.6577G= XP_011538343.1:p.Asp2193=
XM_011540042.1:c.6578-31G= XP_011538344.1:n.6578-31G=
XM_011540043.1:c.6637G= XP_011538345.1:p.Asp2213=
XM_011540044.1:c.6502G= XP_011538346.1:p.Asp2168=
XM_011540045.1:c.6637G= XP_011538347.1:p.Asp2213=
XM_011540046.1:c.6097G= XP_011538348.1:p.Asp2033=
XM_011540047.1:c.5455G= XP_011538349.1:p.Asp1819=
XM_011540048.1:c.6637G= XP_011538350.1:p.Asp2213=
XM_011540049.1:c.6637G= XP_011538351.1:p.Asp2213=
XM_011540050.1:c.6637G= XP_011538352.1:p.Asp2213=
XM_011540051.1:c.6637G= XP_011538353.1:p.Asp2213=
XM_011540052.1:c.2965G= XP_011538354.1:p.Asp989=
XR_945796.1:n.6880G=