Canonical Allele Identifier: CA402894724
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs757895881
gnomAD v3: 19-694928-G-C
gnomAD v4: 19-694928-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694928G>C , CM000681.2:g.694928G>C GRCh38
NC_000019.9:g.694928G>C , CM000681.1:g.694928G>C GRCh37
NC_000019.8:g.645928G>C NCBI36
NG_051189.1:g.5604C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.119C>G MANE Select ENSP00000327386.6:p.Thr40Ser
ENST00000329267.8:c.119C>G ENSP00000327386.6:p.Thr40Ser
ENST00000613411.4:c.122C>G ENSP00000482358.1:p.Thr41Ser
NM_001308209.1:c.119C>G NP_001295138.1:p.Thr40Ser
NM_214710.3:c.122C>G NP_999875.1:p.Thr41Ser
NM_214710.4:c.122C>G NP_999875.1:p.Thr41Ser
NM_001308209.2:c.119C>G MANE Select NP_001295138.2:p.Thr40Ser
NM_214710.5:c.122C>G NP_999875.2:p.Thr41Ser