Canonical Allele Identifier: CA504688354
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs1288976025
gnomAD v2: 19-694957-C-T
gnomAD v3: 19-694957-C-T
gnomAD v4: 19-694957-C-T
MyVariant Identifiers: chr19:g.694957C>T (hg19) chr19:g.694957C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694957C>T , CM000681.2:g.694957C>T GRCh38
NC_000019.9:g.694957C>T , CM000681.1:g.694957C>T GRCh37
NC_000019.8:g.645957C>T NCBI36
NG_051189.1:g.5575G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.90G>A MANE Select ENSP00000327386.6:p.Gly30=
ENST00000329267.8:c.90G>A ENSP00000327386.6:p.Gly30=
ENST00000613411.4:c.93G>A ENSP00000482358.1:p.Gly31=
NM_001308209.1:c.90G>A NP_001295138.1:p.Gly30=
NM_214710.3:c.93G>A NP_999875.1:p.Gly31=
NM_214710.4:c.93G>A NP_999875.1:p.Gly31=
NM_001308209.2:c.90G>A MANE Select NP_001295138.2:p.Gly30=
NM_214710.5:c.93G>A NP_999875.2:p.Gly31=
Search 100 bp 5'
Search 100 bp 3'