Canonical Allele Identifier: CA303953127
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs984105451
gnomAD v3: 19-694637-T-G
gnomAD v4: 19-694637-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694637T>G , CM000681.2:g.694637T>G GRCh38
NC_000019.9:g.694637T>G , CM000681.1:g.694637T>G GRCh37
NC_000019.8:g.645637T>G NCBI36
NG_051189.1:g.5895A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.233+177A>C MANE Select ENSP00000327386.6:n.233+177A>C
ENST00000329267.8:c.233+177A>C ENSP00000327386.6:n.233+177A>C
ENST00000613411.4:c.236+177A>C ENSP00000482358.1:n.236+177A>C
NM_001308209.1:c.233+177A>C NP_001295138.1:n.233+177A>C
NM_214710.3:c.236+177A>C NP_999875.1:n.236+177A>C
NM_214710.4:c.236+177A>C NP_999875.1:n.236+177A>C
NM_001308209.2:c.233+177A>C MANE Select NP_001295138.2:n.233+177A>C
NM_214710.5:c.236+177A>C NP_999875.2:n.236+177A>C