Canonical Allele Identifier: CA8196248

Gene: CDH13

Genomic Alleles

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

Transcript Alleles

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