Canonical Allele Identifier: CA350991612
Gene: PRSS56 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523566G>C , CM000664.2:g.232523566G>C GRCh38
NC_000002.11:g.233388276G>C , CM000664.1:g.233388276G>C GRCh37
NC_000002.10:g.233096520G>C NCBI36
NG_008028.1:g.2355G>C
NG_031969.1:g.8104G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1000G>C MANE Select ENSP00000479745.1:p.Glu334Gln
ENST00000449534.6:c.1000G>C ENSP00000473410.1:p.Glu334Gln
ENST00000617714.1:c.1000G>C ENSP00000479745.1:p.Glu334Gln
NM_001195129.1:c.1000G>C NP_001182058.1:p.Glu334Gln
NM_001195129.2:c.1000G>C MANE Select NP_001182058.1:p.Glu334Gln
NM_001369848.1:c.1000G>C NP_001356777.1:p.Glu334Gln