Canonical Allele Identifier: CA884127988
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs1449199462
gnomAD v3: 19-695049-C-T
gnomAD v4: 19-695049-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.695049C>T , CM000681.2:g.695049C>T GRCh38
NC_000019.9:g.695049C>T , CM000681.1:g.695049C>T GRCh37
NC_000019.8:g.646049C>T NCBI36
NG_051189.1:g.5483G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.80-82G>A MANE Select ENSP00000327386.6:n.80-82G>A
ENST00000329267.8:c.80-82G>A ENSP00000327386.6:n.80-82G>A
ENST00000613411.4:c.80-79G>A ENSP00000482358.1:n.80-79G>A
NM_001308209.1:c.80-82G>A NP_001295138.1:n.80-82G>A
NM_214710.3:c.80-79G>A NP_999875.1:n.80-79G>A
NM_214710.4:c.80-79G>A NP_999875.1:n.80-79G>A
NM_001308209.2:c.80-82G>A MANE Select NP_001295138.2:n.80-82G>A
NM_214710.5:c.80-79G>A NP_999875.2:n.80-79G>A