Canonical Allele Identifier: CA992435872
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs2031758921
gnomAD v3: 19-695293-G-A
gnomAD v4: 19-695293-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.695293G>A , CM000681.2:g.695293G>A GRCh38
NC_000019.9:g.695293G>A , CM000681.1:g.695293G>A GRCh37
NC_000019.8:g.646293G>A NCBI36
NG_051189.1:g.5239C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.79+59C>T MANE Select ENSP00000327386.6:n.79+59C>T
ENST00000329267.8:c.79+59C>T ENSP00000327386.6:n.79+59C>T
ENST00000613411.4:c.79+59C>T ENSP00000482358.1:n.79+59C>T
NM_001308209.1:c.79+59C>T NP_001295138.1:n.79+59C>T
NM_214710.3:c.79+59C>T NP_999875.1:n.79+59C>T
NM_214710.4:c.79+59C>T NP_999875.1:n.79+59C>T
NM_001308209.2:c.79+59C>T MANE Select NP_001295138.2:n.79+59C>T
NM_214710.5:c.79+59C>T NP_999875.2:n.79+59C>T
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