Canonical Allele Identifier: CA395721256
Community Standard Title: NM_001039503.3(PRSS53):c.1216C>A (p.Pro406Thr)
Gene: PRSS53 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001039503.3:c.1216C>A MANE Select NP_001034592.1:p.Pro406Thr
ENST00000280606.7:c.1216C>A MANE Select ENSP00000280606.6:p.Pro406Thr
NM_001039503.2:c.1216C>A NP_001034592.1:p.Pro406Thr
ENST00000280606.6:c.1216C>A ENSP00000280606.6:p.Pro406Thr
ENST00000486499.1:n.4083C>A
ENST00000533518.5:c.1565C>A
XM_011545816.1:c.1357C>A XP_011544118.1:p.Pro453Thr
XM_011545816.2:c.1357C>A XP_011544118.1:p.Pro453Thr
XM_011545817.1:c.1357C>A XP_011544119.1:p.Pro453Thr
XM_011545817.2:c.1357C>A XP_011544119.1:p.Pro453Thr
XM_011545818.1:c.1357C>A XP_011544120.1:p.Pro453Thr
XM_011545818.3:c.1357C>A XP_011544120.1:p.Pro453Thr
XM_011545819.1:c.1216C>A XP_011544121.1:p.Pro406Thr
XM_011545819.2:c.1216C>A XP_011544121.1:p.Pro406Thr
XM_011545820.1:c.1216C>A XP_011544122.1:p.Pro406Thr
XM_011545820.2:c.1216C>A XP_011544122.1:p.Pro406Thr