Canonical Allele Identifier: CA884127458
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs1355306184
gnomAD v3: 19-694616-G-T
gnomAD v4: 19-694616-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694616G>T , CM000681.2:g.694616G>T GRCh38
NC_000019.9:g.694616G>T , CM000681.1:g.694616G>T GRCh37
NC_000019.8:g.645616G>T NCBI36
NG_051189.1:g.5916C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.233+198C>A MANE Select ENSP00000327386.6:n.233+198C>A
ENST00000329267.8:c.233+198C>A ENSP00000327386.6:n.233+198C>A
ENST00000613411.4:c.236+198C>A ENSP00000482358.1:n.236+198C>A
NM_001308209.1:c.233+198C>A NP_001295138.1:n.233+198C>A
NM_214710.3:c.236+198C>A NP_999875.1:n.236+198C>A
NM_214710.4:c.236+198C>A NP_999875.1:n.236+198C>A
NM_001308209.2:c.233+198C>A MANE Select NP_001295138.2:n.233+198C>A
NM_214710.5:c.236+198C>A NP_999875.2:n.236+198C>A