Canonical Allele Identifier: CA350992118
Gene: PRSS56 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523805T>A , CM000664.2:g.232523805T>A GRCh38
NC_000002.11:g.233388515T>A , CM000664.1:g.233388515T>A GRCh37
NC_000002.10:g.233096759T>A NCBI36
NG_008028.1:g.2594T>A
NG_031969.1:g.8343T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1046T>A MANE Select ENSP00000479745.1:p.Leu349His
ENST00000449534.6:c.1049T>A ENSP00000473410.1:p.Leu350His
ENST00000617714.1:c.1046T>A ENSP00000479745.1:p.Leu349His
NM_001195129.1:c.1046T>A NP_001182058.1:p.Leu349His
NM_001195129.2:c.1046T>A MANE Select NP_001182058.1:p.Leu349His
NM_001369848.1:c.1049T>A NP_001356777.1:p.Leu350His