Canonical Allele Identifier: CA280612726
Community Standard Title: NM_001039503.3(PRSS53):c.1216C>T (p.Pro406Ser)
Gene: PRSS53 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31084843G>A , CM000678.2:g.31084843G>A GRCh38
NC_000016.9:g.31096164G>A , CM000678.1:g.31096164G>A GRCh37
NC_000016.8:g.31003665G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001039503.3:c.1216C>T MANE Select NP_001034592.1:p.Pro406Ser
ENST00000280606.7:c.1216C>T MANE Select ENSP00000280606.6:p.Pro406Ser
NM_001039503.2:c.1216C>T NP_001034592.1:p.Pro406Ser
ENST00000280606.6:c.1216C>T ENSP00000280606.6:p.Pro406Ser
ENST00000486499.1:n.4083C>T
ENST00000533518.5:c.1565C>T
XM_011545816.1:c.1357C>T XP_011544118.1:p.Pro453Ser
XM_011545816.2:c.1357C>T XP_011544118.1:p.Pro453Ser
XM_011545817.1:c.1357C>T XP_011544119.1:p.Pro453Ser
XM_011545817.2:c.1357C>T XP_011544119.1:p.Pro453Ser
XM_011545818.1:c.1357C>T XP_011544120.1:p.Pro453Ser
XM_011545818.3:c.1357C>T XP_011544120.1:p.Pro453Ser
XM_011545819.1:c.1216C>T XP_011544121.1:p.Pro406Ser
XM_011545819.2:c.1216C>T XP_011544121.1:p.Pro406Ser
XM_011545820.1:c.1216C>T XP_011544122.1:p.Pro406Ser
XM_011545820.2:c.1216C>T XP_011544122.1:p.Pro406Ser