Canonical Allele Identifier: CA2508261728
Gene: PRSS57 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694595A>C , CM000681.2:g.694595A>C GRCh38
NC_000019.9:g.694595A>C , CM000681.1:g.694595A>C GRCh37
NC_000019.8:g.645595A>C NCBI36
NG_051189.1:g.5937T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.233+219T>G MANE Select ENSP00000327386.6:n.233+219T>G
ENST00000329267.8:c.233+219T>G ENSP00000327386.6:n.233+219T>G
ENST00000613411.4:c.236+219T>G ENSP00000482358.1:n.236+219T>G
NM_001308209.1:c.233+219T>G NP_001295138.1:n.233+219T>G
NM_214710.3:c.236+219T>G NP_999875.1:n.236+219T>G
NM_214710.4:c.236+219T>G NP_999875.1:n.236+219T>G
NM_001308209.2:c.233+219T>G MANE Select NP_001295138.2:n.233+219T>G
NM_214710.5:c.236+219T>G NP_999875.2:n.236+219T>G