Canonical Allele Identifier: CA2563128954
Gene: PRSS57 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694591C>G , CM000681.2:g.694591C>G GRCh38
NC_000019.9:g.694591C>G , CM000681.1:g.694591C>G GRCh37
NC_000019.8:g.645591C>G NCBI36
NG_051189.1:g.5941G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.233+223G>C MANE Select ENSP00000327386.6:n.233+223G>C
ENST00000329267.8:c.233+223G>C ENSP00000327386.6:n.233+223G>C
ENST00000613411.4:c.236+223G>C ENSP00000482358.1:n.236+223G>C
NM_001308209.1:c.233+223G>C NP_001295138.1:n.233+223G>C
NM_214710.3:c.236+223G>C NP_999875.1:n.236+223G>C
NM_214710.4:c.236+223G>C NP_999875.1:n.236+223G>C
NM_001308209.2:c.233+223G>C MANE Select NP_001295138.2:n.233+223G>C
NM_214710.5:c.236+223G>C NP_999875.2:n.236+223G>C