Canonical Allele Identifier: CA285844558

Gene: CDH13

Linked Data

• dbSNP Id: rs375654008
• gnomAD v2: 16-83270449-G-C
• gnomAD v3: 16-83236844-G-C
• gnomAD v4: 16-83236844-G-C
• MyVariant Identifiers: chr16:g.83270449G>C (hg19) ; chr16:g.83236844G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.83236844G>C , CM000678.2:g.83236844G>C	GRCh38
NC_000016.9:g.83270449G>C , CM000678.1:g.83270449G>C	GRCh37
NC_000016.8:g.81827950G>C	NCBI36
NG_052819.1:g.615051G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567109.6:c.636+19347G>C MANE Select	ENSP00000479395.1:n.636+19347G>C
ENST00000268613.14:c.777+19347G>C	ENSP00000268613.10:n.777+19347G>C
ENST00000428848.7:c.519+19347G>C	ENSP00000394557.3:n.519+19347G>C
ENST00000539548.6:c.*268+19347G>C	ENSP00000442225.2:n.*268+19347G>C
ENST00000566620.5:c.600+19347G>C	ENSP00000454435.3:n.600+19347G>C
ENST00000567109.5:c.636+19347G>C	ENSP00000479395.1:n.636+19347G>C
ENST00000569454.1:n.553+19347G>C
ENST00000622885.4:c.480+19347G>C	ENSP00000483719.1:n.480+19347G>C
NM_001220488.1:c.777+19347G>C	NP_001207417.1:n.777+19347G>C
NM_001220489.1:c.519+19347G>C	NP_001207418.1:n.519+19347G>C
NM_001220490.1:c.-127+19347G>C	NP_001207419.1:n.-127+19347G>C
NM_001257.4:c.636+19347G>C	NP_001248.1:n.636+19347G>C
XM_011522804.1:c.333+19347G>C	XP_011521106.1:n.333+19347G>C
XM_011522805.1:c.777+19347G>C	XP_011521107.1:n.777+19347G>C
XM_011522804.3:c.333+19347G>C	XP_011521106.1:n.333+19347G>C
XM_017022848.2:c.777+19347G>C	XP_016878337.1:n.777+19347G>C
NM_001257.5:c.636+19347G>C MANE Select	NP_001248.1:n.636+19347G>C
NM_001220488.2:c.777+19347G>C	NP_001207417.1:n.777+19347G>C
NM_001220489.2:c.519+19347G>C	NP_001207418.1:n.519+19347G>C
NM_001220490.2:c.-127+19347G>C	NP_001207419.1:n.-127+19347G>C