Canonical Allele Identifier: CA8020709

Gene: PRSS53

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001039503.3:c.1216C>G MANE Select	NP_001034592.1:p.Pro406Ala
ENST00000280606.7:c.1216C>G MANE Select	ENSP00000280606.6:p.Pro406Ala
NM_001039503.2:c.1216C>G	NP_001034592.1:p.Pro406Ala
ENST00000280606.6:c.1216C>G	ENSP00000280606.6:p.Pro406Ala
ENST00000486499.1:n.4083C>G
ENST00000533518.5:c.1565C>G
XM_011545816.1:c.1357C>G	XP_011544118.1:p.Pro453Ala
XM_011545816.2:c.1357C>G	XP_011544118.1:p.Pro453Ala
XM_011545817.1:c.1357C>G	XP_011544119.1:p.Pro453Ala
XM_011545817.2:c.1357C>G	XP_011544119.1:p.Pro453Ala
XM_011545818.1:c.1357C>G	XP_011544120.1:p.Pro453Ala
XM_011545818.3:c.1357C>G	XP_011544120.1:p.Pro453Ala
XM_011545819.1:c.1216C>G	XP_011544121.1:p.Pro406Ala
XM_011545819.2:c.1216C>G	XP_011544121.1:p.Pro406Ala
XM_011545820.1:c.1216C>G	XP_011544122.1:p.Pro406Ala
XM_011545820.2:c.1216C>G	XP_011544122.1:p.Pro406Ala