Canonical Allele Identifier: CA2587779550
Gene: PRSS57 HGNC NCBI

Linked Data

gnomAD v4: 19-695239-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.695239A>C , CM000681.2:g.695239A>C GRCh38
NC_000019.9:g.695239A>C , CM000681.1:g.695239A>C GRCh37
NC_000019.8:g.646239A>C NCBI36
NG_051189.1:g.5293T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.79+113T>G MANE Select ENSP00000327386.6:n.79+113T>G
ENST00000329267.8:c.79+113T>G ENSP00000327386.6:n.79+113T>G
ENST00000613411.4:c.79+113T>G ENSP00000482358.1:n.79+113T>G
NM_001308209.1:c.79+113T>G NP_001295138.1:n.79+113T>G
NM_214710.3:c.79+113T>G NP_999875.1:n.79+113T>G
NM_214710.4:c.79+113T>G NP_999875.1:n.79+113T>G
NM_001308209.2:c.79+113T>G MANE Select NP_001295138.2:n.79+113T>G
NM_214710.5:c.79+113T>G NP_999875.2:n.79+113T>G