Canonical Allele Identifier: CA350991982
Gene: PRSS56 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233388497A>C (hg19) chr2:g.232523787A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523787A>C , CM000664.2:g.232523787A>C GRCh38
NC_000002.11:g.233388497A>C , CM000664.1:g.233388497A>C GRCh37
NC_000002.10:g.233096741A>C NCBI36
NG_008028.1:g.2576A>C
NG_031969.1:g.8325A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1028A>C MANE Select ENSP00000479745.1:p.Glu343Ala
ENST00000449534.6:c.1031A>C ENSP00000473410.1:p.Glu344Ala
ENST00000617714.1:c.1028A>C ENSP00000479745.1:p.Glu343Ala
NM_001195129.1:c.1028A>C NP_001182058.1:p.Glu343Ala
NM_001195129.2:c.1028A>C MANE Select NP_001182058.1:p.Glu343Ala
NM_001369848.1:c.1031A>C NP_001356777.1:p.Glu344Ala
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