Canonical Allele Identifier: CA350991548
Gene: PRSS56 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523559G>T , CM000664.2:g.232523559G>T GRCh38
NC_000002.11:g.233388269G>T , CM000664.1:g.233388269G>T GRCh37
NC_000002.10:g.233096513G>T NCBI36
NG_008028.1:g.2348G>T
NG_031969.1:g.8097G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.993G>T MANE Select ENSP00000479745.1:p.Trp331Cys
ENST00000449534.6:c.993G>T ENSP00000473410.1:p.Trp331Cys
ENST00000617714.1:c.993G>T ENSP00000479745.1:p.Trp331Cys
NM_001195129.1:c.993G>T NP_001182058.1:p.Trp331Cys
NM_001195129.2:c.993G>T MANE Select NP_001182058.1:p.Trp331Cys
NM_001369848.1:c.993G>T NP_001356777.1:p.Trp331Cys