Canonical Allele Identifier: CA285861930

Gene: CDH13

Linked Data

• dbSNP Id: rs973227544
• gnomAD v2: 16-83360781-A-C
• gnomAD v3: 16-83327176-A-C
• gnomAD v4: 16-83327176-A-C
• MyVariant Identifiers: chr16:g.83360781A>C (hg19) ; chr16:g.83327176A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.83327176A>C , CM000678.2:g.83327176A>C	GRCh38
NC_000016.9:g.83360781A>C , CM000678.1:g.83360781A>C	GRCh37
NC_000016.8:g.81918282A>C	NCBI36
NG_052819.1:g.705383A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567109.6:c.637-17686A>C MANE Select	ENSP00000479395.1:n.637-17686A>C
ENST00000268613.14:c.778-17686A>C	ENSP00000268613.10:n.778-17686A>C
ENST00000428848.7:c.520-17686A>C	ENSP00000394557.3:n.520-17686A>C
ENST00000539548.6:c.*269-17686A>C	ENSP00000442225.2:n.*269-17686A>C
ENST00000566620.5:c.601-17686A>C	ENSP00000454435.3:n.601-17686A>C
ENST00000567109.5:c.637-17686A>C	ENSP00000479395.1:n.637-17686A>C
ENST00000569454.1:n.554-17686A>C
ENST00000622885.4:c.481-17686A>C	ENSP00000483719.1:n.481-17686A>C
NM_001220488.1:c.778-17686A>C	NP_001207417.1:n.778-17686A>C
NM_001220489.1:c.520-17686A>C	NP_001207418.1:n.520-17686A>C
NM_001220490.1:c.-126-17686A>C	NP_001207419.1:n.-126-17686A>C
NM_001257.4:c.637-17686A>C	NP_001248.1:n.637-17686A>C
XM_011522804.1:c.334-17686A>C	XP_011521106.1:n.334-17686A>C
XM_011522805.1:c.778-17686A>C	XP_011521107.1:n.778-17686A>C
XM_011522804.3:c.334-17686A>C	XP_011521106.1:n.334-17686A>C
XM_017022848.2:c.778-17686A>C	XP_016878337.1:n.778-17686A>C
NM_001257.5:c.637-17686A>C MANE Select	NP_001248.1:n.637-17686A>C
NM_001220488.2:c.778-17686A>C	NP_001207417.1:n.778-17686A>C
NM_001220489.2:c.520-17686A>C	NP_001207418.1:n.520-17686A>C
NM_001220490.2:c.-126-17686A>C	NP_001207419.1:n.-126-17686A>C