Canonical Allele Identifier: CA5545994
Community Standard Title: NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71791165A>C , CM000672.2:g.71791165A>C GRCh38
NC_000010.10:g.73550922A>C , CM000672.1:g.73550922A>C GRCh37
NC_000010.9:g.73220928A>C NCBI36
NG_008835.1:g.399219A>C

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.6083A>C MANE Select NP_071407.4:p.Asp2028Ala
ENST00000224721.12:c.6083A>C MANE Select ENSP00000224721.9:p.Asp2028Ala
NM_022124.5:c.6083A>C NP_071407.4:p.Asp2028Ala
ENST00000224721.10:c.6098A>C ENSP00000224721.8:p.Asp2033Ala
ENST00000622827.4:c.6083A>C ENSP00000483211.1:p.Asp2028Ala
XM_006717940.2:c.6278A>C XP_006718003.1:p.Asp2093Ala
XM_006717942.2:c.6212A>C XP_006718005.1:p.Asp2071Ala
XM_011540039.1:c.6275A>C XP_011538341.1:p.Asp2092Ala
XM_011540040.1:c.6272A>C XP_011538342.1:p.Asp2091Ala
XM_011540041.1:c.6218A>C XP_011538343.1:p.Asp2073Ala
XM_011540042.1:c.6278A>C XP_011538344.1:p.Asp2093Ala
XM_011540043.1:c.6278A>C XP_011538345.1:p.Asp2093Ala
XM_011540044.1:c.6143A>C XP_011538346.1:p.Asp2048Ala
XM_011540045.1:c.6278A>C XP_011538347.1:p.Asp2093Ala
XM_011540046.1:c.5738A>C XP_011538348.1:p.Asp1913Ala
XM_011540047.1:c.5096A>C XP_011538349.1:p.Asp1699Ala
XM_011540048.1:c.6278A>C XP_011538350.1:p.Asp2093Ala
XM_011540049.1:c.6278A>C XP_011538351.1:p.Asp2093Ala
XM_011540050.1:c.6278A>C XP_011538352.1:p.Asp2093Ala
XM_011540051.1:c.6278A>C XP_011538353.1:p.Asp2093Ala
XM_011540052.1:c.2606A>C XP_011538354.1:p.Asp869Ala
XR_945796.1:n.6521A>C