Canonical Allele Identifier: CA353672694
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896663A>T , CM000665.2:g.93896663A>T GRCh38
NC_000003.11:g.93615507A>T , CM000665.1:g.93615507A>T GRCh37
NC_000003.10:g.95098197A>T NCBI36
NG_009813.1:g.82428T>A , LRG_572:g.82428T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.878T>A ENSP00000330021.7:p.Leu293His
ENST00000394236.9:c.878T>A MANE Select ENSP00000377783.3:p.Leu293His
ENST00000407433.6:c.833T>A ENSP00000385794.2:p.Leu278His
ENST00000647936.1:c.878T>A ENSP00000496822.1:p.Leu293His
ENST00000648381.1:n.1046T>A
ENST00000648853.1:c.836T>A ENSP00000497262.1:p.Leu279His
ENST00000649103.1:c.977T>A ENSP00000497962.1:n.977T>A
ENST00000650591.1:c.974T>A ENSP00000497376.1:p.Leu325His
ENST00000394236.7:c.878T>A ENSP00000377783.3:p.Leu293His
ENST00000407433.5:c.485T>A ENSP00000385794.1:p.Leu162His
NM_000313.3:c.878T>A , LRG_572t1:c.878T>A NP_000304.2:p.Leu293His
NM_001314077.1:c.974T>A , LRG_572t2:c.974T>A NP_001301006.1:p.Leu325His
NM_000313.4:c.878T>A MANE Select NP_000304.2:p.Leu293His
NM_001314077.2:c.974T>A NP_001301006.1:p.Leu325His