Canonical Allele Identifier: CA8238672
Gene: CDH15 HGNC NCBI

Linked Data

dbSNP Id: rs759023200
ExAC: 16:89245865 C / T
gnomAD v2: 16-89245865-C-T
gnomAD v4: 16-89179457-C-T
MyVariant Identifiers: chr16:g.89245865C>T (hg19) chr16:g.89179457C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89179457C>T , CM000678.2:g.89179457C>T GRCh38
NC_000016.9:g.89245865C>T , CM000678.1:g.89245865C>T GRCh37
NC_000016.8:g.87773366C>T NCBI36
NG_012055.1:g.12703C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289746.3:c.84C>T MANE Select ENSP00000289746.2:p.Pro28=
ENST00000289746.2:c.84C>T ENSP00000289746.2:p.Pro28=
ENST00000521087.5:n.149C>T
ENST00000524089.1:n.149C>T
NM_004933.2:c.84C>T NP_004924.1:p.Pro28=
XM_011522806.1:c.84C>T XP_011521108.1:p.Pro28=
NM_004933.3:c.84C>T MANE Select NP_004924.1:p.Pro28=
Search 100 bp 5'
Search 100 bp 3'