Canonical Allele Identifier: CA14281379
Gene: PRSS8 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.31133898C>T
GRCh37 chr16:g.31145219C>T
gnomAD v2:
16:31145219 C / T
gnomAD v3:
16:31133898 C / T
gnomAD v4:
chr16-31133898-C-T
Joint Max Group AF 0.87306811 (EAS)
Genomes Max Group AF 0.86980857 (EAS)
Exomes Max Group AF 0.8486339 (EAS)
dbSNP:
12597511
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31133898C>T , CM000678.2:g.31133898C>T GRCh38
NC_000016.9:g.31145219C>T , CM000678.1:g.31145219C>T GRCh37
NC_000016.8:g.31052720C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317508.11:c.104-510G>A MANE Select ENSP00000319730.6:n.104-510G>A
ENST00000317508.10:c.104-510G>A ENSP00000319730.6:n.104-510G>A
ENST00000564025.1:n.333-510G>A
ENST00000567531.5:c.104-510G>A ENSP00000457673.1:n.104-510G>A
ENST00000567797.1:c.86-510G>A ENSP00000458056.1:n.86-510G>A
ENST00000568261.5:c.104-510G>A ENSP00000457750.1:n.104-510G>A
NM_002773.3:c.104-510G>A NP_002764.1:n.104-510G>A
NM_002773.4:c.104-510G>A NP_002764.1:n.104-510G>A
NM_002773.5:c.104-510G>A MANE Select NP_002764.1:n.104-510G>A
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