Canonical Allele Identifier: CA9022260
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs757697420
gnomAD v2: 19-694855-T-G
gnomAD v3: 19-694855-T-G
gnomAD v4: 19-694855-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694855T>G , CM000681.2:g.694855T>G GRCh38
NC_000019.9:g.694855T>G , CM000681.1:g.694855T>G GRCh37
NC_000019.8:g.645855T>G NCBI36
NG_051189.1:g.5677A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.192A>C MANE Select ENSP00000327386.6:p.Arg64=
ENST00000329267.8:c.192A>C ENSP00000327386.6:p.Arg64=
ENST00000613411.4:c.195A>C ENSP00000482358.1:p.Arg65=
NM_001308209.1:c.192A>C NP_001295138.1:p.Arg64=
NM_214710.3:c.195A>C NP_999875.1:p.Arg65=
NM_214710.4:c.195A>C NP_999875.1:p.Arg65=
NM_001308209.2:c.192A>C MANE Select NP_001295138.2:p.Arg64=
NM_214710.5:c.195A>C NP_999875.2:p.Arg65=