Canonical Allele Identifier: CA9022297
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs775214907
ExAC: 19:694967 C / T
gnomAD v2: 19-694967-C-T
gnomAD v4: 19-694967-C-T
MyVariant Identifiers: chr19:g.694967C>T (hg19) chr19:g.694967C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694967C>T , CM000681.2:g.694967C>T GRCh38
NC_000019.9:g.694967C>T , CM000681.1:g.694967C>T GRCh37
NC_000019.8:g.645967C>T NCBI36
NG_051189.1:g.5565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.80G>A MANE Select ENSP00000327386.6:p.Gly27Asp
ENST00000329267.8:c.80G>A ENSP00000327386.6:p.Gly27Asp
ENST00000613411.4:c.83G>A ENSP00000482358.1:p.Gly28Asp
NM_001308209.1:c.80G>A NP_001295138.1:p.Gly27Asp
NM_214710.3:c.83G>A NP_999875.1:p.Gly28Asp
NM_214710.4:c.83G>A NP_999875.1:p.Gly28Asp
NM_001308209.2:c.80G>A MANE Select NP_001295138.2:p.Gly27Asp
NM_214710.5:c.83G>A NP_999875.2:p.Gly28Asp
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