Canonical Allele Identifier: CA431951244
Gene: PRSS56 HGNC NCBI

Linked Data

gnomAD v4: 2-232523776-C-A
MyVariant Identifiers: chr2:g.233388486C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523776C>A , CM000664.2:g.232523776C>A GRCh38
NC_000002.11:g.233388486C>A , CM000664.1:g.233388486C>A GRCh37
NC_000002.10:g.233096730C>A NCBI36
NG_008028.1:g.2565C>A
NG_031969.1:g.8314C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1017C>A MANE Select ENSP00000479745.1:p.Ser339=
ENST00000449534.6:c.1020C>A ENSP00000473410.1:p.Ser340=
ENST00000617714.1:c.1017C>A ENSP00000479745.1:p.Ser339=
NM_001195129.1:c.1017C>A NP_001182058.1:p.Ser339=
NM_001195129.2:c.1017C>A MANE Select NP_001182058.1:p.Ser339=
NM_001369848.1:c.1020C>A NP_001356777.1:p.Ser340=
Search 100 bp 5'
Search 100 bp 3'