Canonical Allele Identifier: CA353674610
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93927341T>A , CM000665.2:g.93927341T>A GRCh38
NC_000003.11:g.93646185T>A , CM000665.1:g.93646185T>A GRCh37
NC_000003.10:g.95128875T>A NCBI36
NG_009813.1:g.51750A>T , LRG_572:g.51750A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.143A>T ENSP00000330021.7:p.Glu48Val
ENST00000394236.9:c.143A>T MANE Select ENSP00000377783.3:p.Glu48Val
ENST00000407433.6:c.143A>T ENSP00000385794.2:p.Glu48Val
ENST00000472684.2:c.-251A>T ENSP00000419616.2:n.-251A>T
ENST00000647936.1:c.143A>T ENSP00000496822.1:p.Glu48Val
ENST00000648381.1:n.311A>T
ENST00000648853.1:c.101A>T ENSP00000497262.1:p.Glu34Val
ENST00000649103.1:c.122A>T ENSP00000497962.1:p.Glu41Val
ENST00000650591.1:c.239A>T ENSP00000497376.1:p.Glu80Val
ENST00000348974.4:c.239A>T ENSP00000330021.6:p.Glu80Val
ENST00000394236.7:c.143A>T ENSP00000377783.3:p.Glu48Val
ENST00000407433.5:c.-251A>T ENSP00000385794.1:n.-251A>T
ENST00000472684.1:c.-251A>T ENSP00000419616.1:n.-251A>T
NM_000313.3:c.143A>T , LRG_572t1:c.143A>T NP_000304.2:p.Glu48Val
NM_001314077.1:c.239A>T , LRG_572t2:c.239A>T NP_001301006.1:p.Glu80Val
NM_000313.4:c.143A>T MANE Select NP_000304.2:p.Glu48Val
NM_001314077.2:c.239A>T NP_001301006.1:p.Glu80Val