Canonical Allele Identifier: CA10619971
Gene: PRSS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 347378
ClinVar RCV Id: RCV000333954
dbSNP Id: rs17516164
gnomAD v2: 4-119202284-C-T
gnomAD v3: 4-118281129-C-T
gnomAD v4: 4-118281129-C-T
MyVariant Identifiers: chr4:g.119202284C>T (hg19) chr4:g.118281129C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.118281129C>T , CM000666.2:g.118281129C>T GRCh38
NC_000004.11:g.119202284C>T , CM000666.1:g.119202284C>T GRCh37
NC_000004.10:g.119421732C>T NCBI36
NG_023350.1:g.76639G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296498.3:c.*807G>A MANE Select ENSP00000296498.3:n.*807G>A
NM_003619.3:c.*807G>A NP_003610.2:n.*807G>A
NM_003619.4:c.*807G>A MANE Select NP_003610.2:n.*807G>A
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