Canonical Allele Identifier: CA2238046572
Community Standard Title: NM_001257.5(CDH13):c.207G= (p.Ser69=)
Gene: CDH13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.83032059G= , CM000678.2:g.83032059G= GRCh38
NC_000016.9:g.83065664G= , CM000678.1:g.83065664G= GRCh37
NC_000016.8:g.81623165G= NCBI36
NG_052819.1:g.410266G=

Transcript Alleles

HGVS Amino-acid Change
NM_001257.5:c.207G= MANE Select NP_001248.1:p.Ser69=
ENST00000567109.6:c.207G= MANE Select ENSP00000479395.1:p.Ser69=
NM_001220488.1:c.348G= NP_001207417.1:p.Ser116=
NM_001220488.2:c.348G= NP_001207417.1:p.Ser116=
NM_001220489.1:c.207G= NP_001207418.1:p.Ser69=
NM_001220489.2:c.207G= NP_001207418.1:p.Ser69=
NM_001220490.1:c.-396-93326G= NP_001207419.1:n.-396-93326G=
NM_001220490.2:c.-396-93326G= NP_001207419.1:n.-396-93326G=
NM_001220491.1:c.207G= NP_001207420.1:p.Ser69=
NM_001220491.2:c.207G= NP_001207420.1:p.Ser69=
NM_001220492.1:c.207G= NP_001207421.1:p.Ser69=
NM_001220492.2:c.207G= NP_001207421.1:p.Ser69=
NM_001257.4:c.207G= NP_001248.1:p.Ser69=
ENST00000268613.14:c.348G= ENSP00000268613.10:p.Ser116=
ENST00000428848.7:c.207G= ENSP00000394557.3:p.Ser69=
ENST00000431540.7:c.207G= ENSP00000408632.3:p.Ser69=
ENST00000539548.6:c.158-93326G= ENSP00000442225.2:n.158-93326G=
ENST00000562601.5:c.*216G= ENSP00000455781.1:n.*216G=
ENST00000565636.5:c.207G= ENSP00000456491.1:p.Ser69=
ENST00000566333.1:n.329G=
ENST00000566620.5:c.171G= ENSP00000454435.3:p.Ser57=
ENST00000567109.5:c.207G= ENSP00000479395.1:p.Ser69=
ENST00000568770.5:c.*289G= ENSP00000457149.1:n.*289G=
ENST00000569144.5:c.*200G= ENSP00000457914.1:n.*200G=
ENST00000569454.1:n.124G=
ENST00000622885.4:c.168G= ENSP00000483719.1:p.Ser56=
XM_011522805.1:c.348G= XP_011521107.1:p.Ser116=
XM_017022848.2:c.348G= XP_016878337.1:p.Ser116=
XM_017022849.2:c.348G= XP_016878338.1:p.Ser116=