Canonical Allele Identifier: CA353674609
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93927340T>G , CM000665.2:g.93927340T>G GRCh38
NC_000003.11:g.93646184T>G , CM000665.1:g.93646184T>G GRCh37
NC_000003.10:g.95128874T>G NCBI36
NG_009813.1:g.51751A>C , LRG_572:g.51751A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.144A>C ENSP00000330021.7:p.Glu48Asp
ENST00000394236.9:c.144A>C MANE Select ENSP00000377783.3:p.Glu48Asp
ENST00000407433.6:c.144A>C ENSP00000385794.2:p.Glu48Asp
ENST00000472684.2:c.-250A>C ENSP00000419616.2:n.-250A>C
ENST00000647936.1:c.144A>C ENSP00000496822.1:p.Glu48Asp
ENST00000648381.1:n.312A>C
ENST00000648853.1:c.102A>C ENSP00000497262.1:p.Glu34Asp
ENST00000649103.1:c.123A>C ENSP00000497962.1:p.Glu41Asp
ENST00000650591.1:c.240A>C ENSP00000497376.1:p.Glu80Asp
ENST00000348974.4:c.240A>C ENSP00000330021.6:p.Glu80Asp
ENST00000394236.7:c.144A>C ENSP00000377783.3:p.Glu48Asp
ENST00000407433.5:c.-250A>C ENSP00000385794.1:n.-250A>C
ENST00000472684.1:c.-250A>C ENSP00000419616.1:n.-250A>C
NM_000313.3:c.144A>C , LRG_572t1:c.144A>C NP_000304.2:p.Glu48Asp
NM_001314077.1:c.240A>C , LRG_572t2:c.240A>C NP_001301006.1:p.Glu80Asp
NM_000313.4:c.144A>C MANE Select NP_000304.2:p.Glu48Asp
NM_001314077.2:c.240A>C NP_001301006.1:p.Glu80Asp