Canonical Allele Identifier: CA497144536
Gene: CDH15 HGNC NCBI

Linked Data

dbSNP Id: rs1272246840
gnomAD v2: 16-89245949-G-A
gnomAD v4: 16-89179541-G-A
MyVariant Identifiers: chr16:g.89245949G>A (hg19) chr16:g.89179541G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89179541G>A , CM000678.2:g.89179541G>A GRCh38
NC_000016.9:g.89245949G>A , CM000678.1:g.89245949G>A GRCh37
NC_000016.8:g.87773450G>A NCBI36
NG_012055.1:g.12787G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289746.3:c.168G>A MANE Select ENSP00000289746.2:p.Glu56=
ENST00000289746.2:c.168G>A ENSP00000289746.2:p.Glu56=
ENST00000521087.5:n.233G>A
ENST00000524089.1:n.233G>A
NM_004933.2:c.168G>A NP_004924.1:p.Glu56=
XM_011522806.1:c.168G>A XP_011521108.1:p.Glu56=
NM_004933.3:c.168G>A MANE Select NP_004924.1:p.Glu56=
Search 100 bp 5'
Search 100 bp 3'