Canonical Allele Identifier: CA350992110
Gene: PRSS56 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523804C>A , CM000664.2:g.232523804C>A GRCh38
NC_000002.11:g.233388514C>A , CM000664.1:g.233388514C>A GRCh37
NC_000002.10:g.233096758C>A NCBI36
NG_008028.1:g.2593C>A
NG_031969.1:g.8342C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1045C>A MANE Select ENSP00000479745.1:p.Leu349Ile
ENST00000449534.6:c.1048C>A ENSP00000473410.1:p.Leu350Ile
ENST00000617714.1:c.1045C>A ENSP00000479745.1:p.Leu349Ile
NM_001195129.1:c.1045C>A NP_001182058.1:p.Leu349Ile
NM_001195129.2:c.1045C>A MANE Select NP_001182058.1:p.Leu349Ile
NM_001369848.1:c.1048C>A NP_001356777.1:p.Leu350Ile