Canonical Allele Identifier: CA353672548
Gene: PROS1 HGNC NCBI

Linked Data

gnomAD v4: 3-93896597-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896597A>T , CM000665.2:g.93896597A>T GRCh38
NC_000003.11:g.93615441A>T , CM000665.1:g.93615441A>T GRCh37
NC_000003.10:g.95098131A>T NCBI36
NG_009813.1:g.82494T>A , LRG_572:g.82494T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.944T>A ENSP00000330021.7:p.Phe315Tyr
ENST00000394236.9:c.944T>A MANE Select ENSP00000377783.3:p.Phe315Tyr
ENST00000407433.6:c.899T>A ENSP00000385794.2:p.Phe300Tyr
ENST00000647936.1:c.944T>A ENSP00000496822.1:p.Phe315Tyr
ENST00000648381.1:n.1112T>A
ENST00000648853.1:c.902T>A ENSP00000497262.1:p.Phe301Tyr
ENST00000649103.1:c.1043T>A ENSP00000497962.1:n.1043T>A
ENST00000650591.1:c.1040T>A ENSP00000497376.1:p.Phe347Tyr
ENST00000394236.7:c.944T>A ENSP00000377783.3:p.Phe315Tyr
ENST00000407433.5:c.551T>A ENSP00000385794.1:p.Phe184Tyr
NM_000313.3:c.944T>A , LRG_572t1:c.944T>A NP_000304.2:p.Phe315Tyr
NM_001314077.1:c.1040T>A , LRG_572t2:c.1040T>A NP_001301006.1:p.Phe347Tyr
NM_000313.4:c.944T>A MANE Select NP_000304.2:p.Phe315Tyr
NM_001314077.2:c.1040T>A NP_001301006.1:p.Phe347Tyr