Canonical Allele Identifier: CA5545092
Community Standard Title: NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71740895A>G , CM000672.2:g.71740895A>G GRCh38
NC_000010.10:g.73500652A>G , CM000672.1:g.73500652A>G GRCh37
NC_000010.9:g.73170658A>G NCBI36
NG_008835.1:g.348949A>G

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.4562A>G MANE Select NP_071407.4:p.Asn1521Ser
ENST00000224721.12:c.4562A>G MANE Select ENSP00000224721.9:p.Asn1521Ser
NM_022124.5:c.4562A>G NP_071407.4:p.Asn1521Ser
ENST00000224721.10:c.4577A>G ENSP00000224721.8:p.Asn1526Ser
ENST00000398792.3:n.1251A>G
ENST00000622827.4:c.4562A>G ENSP00000483211.1:p.Asn1521Ser
XM_006717940.2:c.4757A>G XP_006718003.1:p.Asn1586Ser
XM_006717942.2:c.4691A>G XP_006718005.1:p.Asn1564Ser
XM_011540039.1:c.4754A>G XP_011538341.1:p.Asn1585Ser
XM_011540040.1:c.4751A>G XP_011538342.1:p.Asn1584Ser
XM_011540041.1:c.4697A>G XP_011538343.1:p.Asn1566Ser
XM_011540042.1:c.4757A>G XP_011538344.1:p.Asn1586Ser
XM_011540043.1:c.4757A>G XP_011538345.1:p.Asn1586Ser
XM_011540044.1:c.4622A>G XP_011538346.1:p.Asn1541Ser
XM_011540045.1:c.4757A>G XP_011538347.1:p.Asn1586Ser
XM_011540046.1:c.4217A>G XP_011538348.1:p.Asn1406Ser
XM_011540047.1:c.3575A>G XP_011538349.1:p.Asn1192Ser
XM_011540048.1:c.4757A>G XP_011538350.1:p.Asn1586Ser
XM_011540049.1:c.4757A>G XP_011538351.1:p.Asn1586Ser
XM_011540050.1:c.4757A>G XP_011538352.1:p.Asn1586Ser
XM_011540051.1:c.4757A>G XP_011538353.1:p.Asn1586Ser
XM_011540052.1:c.1085A>G XP_011538354.1:p.Asn362Ser
XM_011540053.1:c.4757A>G XP_011538355.1:p.Asn1586Ser
XR_945796.1:n.5000A>G