Canonical Allele Identifier: CA353674438
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93927267C>A , CM000665.2:g.93927267C>A GRCh38
NC_000003.11:g.93646111C>A , CM000665.1:g.93646111C>A GRCh37
NC_000003.10:g.95128801C>A NCBI36
NG_009813.1:g.51824G>T , LRG_572:g.51824G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.217G>T ENSP00000330021.7:p.Glu73Ter
ENST00000394236.9:c.217G>T MANE Select ENSP00000377783.3:p.Glu73Ter
ENST00000407433.6:c.217G>T ENSP00000385794.2:p.Glu73Ter
ENST00000472684.2:c.-177G>T ENSP00000419616.2:n.-177G>T
ENST00000647936.1:c.217G>T ENSP00000496822.1:p.Glu73Ter
ENST00000648381.1:n.385G>T
ENST00000648853.1:c.175G>T ENSP00000497262.1:p.Glu59Ter
ENST00000649103.1:c.196G>T ENSP00000497962.1:p.Glu66Ter
ENST00000650591.1:c.313G>T ENSP00000497376.1:p.Glu105Ter
ENST00000348974.4:c.313G>T ENSP00000330021.6:p.Glu105Ter
ENST00000394236.7:c.217G>T ENSP00000377783.3:p.Glu73Ter
ENST00000407433.5:c.-177G>T ENSP00000385794.1:n.-177G>T
ENST00000472684.1:c.-177G>T ENSP00000419616.1:n.-177G>T
NM_000313.3:c.217G>T , LRG_572t1:c.217G>T NP_000304.2:p.Glu73Ter
NM_001314077.1:c.313G>T , LRG_572t2:c.313G>T NP_001301006.1:p.Glu105Ter
NM_000313.4:c.217G>T MANE Select NP_000304.2:p.Glu73Ter
NM_001314077.2:c.313G>T NP_001301006.1:p.Glu105Ter