Canonical Allele Identifier: CA1043463056
Gene: PRSS56 HGNC NCBI

Linked Data

dbSNP Id: rs1691336380
gnomAD v3: 2-232523760-C-A
gnomAD v4: 2-232523760-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523760C>A , CM000664.2:g.232523760C>A GRCh38
NC_000002.11:g.233388470C>A , CM000664.1:g.233388470C>A GRCh37
NC_000002.10:g.233096714C>A NCBI36
NG_008028.1:g.2549C>A
NG_031969.1:g.8298C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1013-12C>A MANE Select ENSP00000479745.1:n.1013-12C>A
ENST00000449534.6:c.1013-9C>A ENSP00000473410.1:n.1013-9C>A
ENST00000617714.1:c.1013-12C>A ENSP00000479745.1:n.1013-12C>A
NM_001195129.1:c.1013-12C>A NP_001182058.1:n.1013-12C>A
NM_001195129.2:c.1013-12C>A MANE Select NP_001182058.1:n.1013-12C>A
NM_001369848.1:c.1013-9C>A NP_001356777.1:n.1013-9C>A
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