Canonical Allele Identifier: CA353670971
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93877037A>T , CM000665.2:g.93877037A>T GRCh38
NC_000003.11:g.93595881A>T , CM000665.1:g.93595881A>T GRCh37
NC_000003.10:g.95078571A>T NCBI36
NG_009813.1:g.102054T>A , LRG_572:g.102054T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1799T>A ENSP00000330021.7:p.Leu600His
ENST00000394236.9:c.1799T>A MANE Select ENSP00000377783.3:p.Leu600His
ENST00000407433.6:c.1754T>A ENSP00000385794.2:p.Leu585His
ENST00000647936.1:c.1644+2126T>A ENSP00000496822.1:n.1644+2126T>A
ENST00000648381.1:n.1967T>A
ENST00000648853.1:c.1757T>A ENSP00000497262.1:p.Leu586His
ENST00000649585.1:c.742T>A ENSP00000498163.1:n.742T>A
ENST00000650591.1:c.1895T>A ENSP00000497376.1:p.Leu632His
ENST00000394236.7:c.1799T>A ENSP00000377783.3:p.Leu600His
ENST00000407433.5:c.1406T>A ENSP00000385794.1:p.Leu469His
NM_000313.3:c.1799T>A , LRG_572t1:c.1799T>A NP_000304.2:p.Leu600His
NM_001314077.1:c.1895T>A , LRG_572t2:c.1895T>A NP_001301006.1:p.Leu632His
NM_000313.4:c.1799T>A MANE Select NP_000304.2:p.Leu600His
NM_001314077.2:c.1895T>A NP_001301006.1:p.Leu632His