Canonical Allele Identifier: CA402894569
Gene: PRSS57 HGNC NCBI

Linked Data

gnomAD v4: 19-694880-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694880T>A , CM000681.2:g.694880T>A GRCh38
NC_000019.9:g.694880T>A , CM000681.1:g.694880T>A GRCh37
NC_000019.8:g.645880T>A NCBI36
NG_051189.1:g.5652A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.167A>T MANE Select ENSP00000327386.6:p.His56Leu
ENST00000329267.8:c.167A>T ENSP00000327386.6:p.His56Leu
ENST00000613411.4:c.170A>T ENSP00000482358.1:p.His57Leu
NM_001308209.1:c.167A>T NP_001295138.1:p.His56Leu
NM_214710.3:c.170A>T NP_999875.1:p.His57Leu
NM_214710.4:c.170A>T NP_999875.1:p.His57Leu
NM_001308209.2:c.167A>T MANE Select NP_001295138.2:p.His56Leu
NM_214710.5:c.170A>T NP_999875.2:p.His57Leu