Canonical Allele Identifier: CA350991885
Gene: PRSS56 HGNC NCBI

Linked Data

dbSNP Id: rs1462608700

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523772C>T , CM000664.2:g.232523772C>T GRCh38
NC_000002.11:g.233388482C>T , CM000664.1:g.233388482C>T GRCh37
NC_000002.10:g.233096726C>T NCBI36
NG_008028.1:g.2561C>T
NG_031969.1:g.8310C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1013C>T MANE Select ENSP00000479745.1:p.Ala338Val
ENST00000449534.6:c.1016C>T ENSP00000473410.1:p.Ala339Val
ENST00000617714.1:c.1013C>T ENSP00000479745.1:p.Ala338Val
NM_001195129.1:c.1013C>T NP_001182058.1:p.Ala338Val
NM_001195129.2:c.1013C>T MANE Select NP_001182058.1:p.Ala338Val
NM_001369848.1:c.1016C>T NP_001356777.1:p.Ala339Val