Canonical Allele Identifier: CA9022261
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs781750245
gnomAD v2: 19-694857-G-A
gnomAD v3: 19-694857-G-A
gnomAD v4: 19-694857-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694857G>A , CM000681.2:g.694857G>A GRCh38
NC_000019.9:g.694857G>A , CM000681.1:g.694857G>A GRCh37
NC_000019.8:g.645857G>A NCBI36
NG_051189.1:g.5675C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.190C>T MANE Select ENSP00000327386.6:p.Arg64Ter
ENST00000329267.8:c.190C>T ENSP00000327386.6:p.Arg64Ter
ENST00000613411.4:c.193C>T ENSP00000482358.1:p.Arg65Ter
NM_001308209.1:c.190C>T NP_001295138.1:p.Arg64Ter
NM_214710.3:c.193C>T NP_999875.1:p.Arg65Ter
NM_214710.4:c.193C>T NP_999875.1:p.Arg65Ter
NM_001308209.2:c.190C>T MANE Select NP_001295138.2:p.Arg64Ter
NM_214710.5:c.193C>T NP_999875.2:p.Arg65Ter