Canonical Allele Identifier: CA353673479
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93905835A>G , CM000665.2:g.93905835A>G GRCh38
NC_000003.11:g.93624679A>G , CM000665.1:g.93624679A>G GRCh37
NC_000003.10:g.95107369A>G NCBI36
NG_009813.1:g.73256T>C , LRG_572:g.73256T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.550T>C ENSP00000330021.7:p.Cys184Arg
ENST00000394236.9:c.550T>C MANE Select ENSP00000377783.3:p.Cys184Arg
ENST00000407433.6:c.550T>C ENSP00000385794.2:p.Cys184Arg
ENST00000472684.2:c.157T>C ENSP00000419616.2:p.Cys53Arg
ENST00000647936.1:c.550T>C ENSP00000496822.1:p.Cys184Arg
ENST00000648381.1:n.718T>C
ENST00000648853.1:c.508T>C ENSP00000497262.1:p.Cys170Arg
ENST00000649103.1:c.649T>C ENSP00000497962.1:n.649T>C
ENST00000650591.1:c.646T>C ENSP00000497376.1:p.Cys216Arg
ENST00000348974.4:c.646T>C ENSP00000330021.6:p.Cys216Arg
ENST00000394236.7:c.550T>C ENSP00000377783.3:p.Cys184Arg
ENST00000407433.5:c.157T>C ENSP00000385794.1:p.Cys53Arg
ENST00000472684.1:c.157T>C ENSP00000419616.1:p.Cys53Arg
NM_000313.3:c.550T>C , LRG_572t1:c.550T>C NP_000304.2:p.Cys184Arg
NM_001314077.1:c.646T>C , LRG_572t2:c.646T>C NP_001301006.1:p.Cys216Arg
NM_000313.4:c.550T>C MANE Select NP_000304.2:p.Cys184Arg
NM_001314077.2:c.646T>C NP_001301006.1:p.Cys216Arg