Canonical Allele Identifier: CA8238703
Gene: CDH15 HGNC NCBI

Linked Data

dbSNP Id: rs138572161
ExAC: 16:89245941 G / C
gnomAD v2: 16-89245941-G-C
gnomAD v4: 16-89179533-G-C
MyVariant Identifiers: chr16:g.89245941G>C (hg19) chr16:g.89179533G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89179533G>C , CM000678.2:g.89179533G>C GRCh38
NC_000016.9:g.89245941G>C , CM000678.1:g.89245941G>C GRCh37
NC_000016.8:g.87773442G>C NCBI36
NG_012055.1:g.12779G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289746.3:c.160G>C MANE Select ENSP00000289746.2:p.Val54Leu
ENST00000289746.2:c.160G>C ENSP00000289746.2:p.Val54Leu
ENST00000521087.5:n.225G>C
ENST00000524089.1:n.225G>C
NM_004933.2:c.160G>C NP_004924.1:p.Val54Leu
XM_011522806.1:c.160G>C XP_011521108.1:p.Val54Leu
NM_004933.3:c.160G>C MANE Select NP_004924.1:p.Val54Leu
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