Canonical Allele Identifier: CA303954203
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs994421310
gnomAD v2: 19-695288-C-T
gnomAD v3: 19-695288-C-T
gnomAD v4: 19-695288-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.695288C>T , CM000681.2:g.695288C>T GRCh38
NC_000019.9:g.695288C>T , CM000681.1:g.695288C>T GRCh37
NC_000019.8:g.646288C>T NCBI36
NG_051189.1:g.5244G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.79+64G>A MANE Select ENSP00000327386.6:n.79+64G>A
ENST00000329267.8:c.79+64G>A ENSP00000327386.6:n.79+64G>A
ENST00000613411.4:c.79+64G>A ENSP00000482358.1:n.79+64G>A
NM_001308209.1:c.79+64G>A NP_001295138.1:n.79+64G>A
NM_214710.3:c.79+64G>A NP_999875.1:n.79+64G>A
NM_214710.4:c.79+64G>A NP_999875.1:n.79+64G>A
NM_001308209.2:c.79+64G>A MANE Select NP_001295138.2:n.79+64G>A
NM_214710.5:c.79+64G>A NP_999875.2:n.79+64G>A