Canonical Allele Identifier: CA14246839
Gene: CASC16 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.52552429A>G
GRCh37 chr16:g.52586341A>G
gnomAD v2:
16:52586341 A / G
gnomAD v3:
16:52552429 A / G
gnomAD v4:
chr16-52552429-A-G
Joint Max Group AF 0.72688945 (NFE)
Genomes Max Group AF 0.72690139 (NFE)
Exomes Max Group AF 0.24626806 (NFE)
dbSNP:
3803662
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.52552429A>G , CM000678.2:g.52552429A>G GRCh38
NC_000016.9:g.52586341A>G , CM000678.1:g.52586341A>G GRCh37
NC_000016.8:g.51143842A>G NCBI36
NG_012623.1:g.374T>C

Transcript Alleles

HGVS Amino-acid Change
NR_033920.1:n.659T>C
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