Canonical Allele Identifier: CA353673122
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93900830T>A , CM000665.2:g.93900830T>A GRCh38
NC_000003.11:g.93619674T>A , CM000665.1:g.93619674T>A GRCh37
NC_000003.10:g.95102364T>A NCBI36
NG_009813.1:g.78261A>T , LRG_572:g.78261A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.701A>T ENSP00000330021.7:p.Tyr234Phe
ENST00000394236.9:c.701A>T MANE Select ENSP00000377783.3:p.Tyr234Phe
ENST00000407433.6:c.656A>T ENSP00000385794.2:p.Tyr219Phe
ENST00000647936.1:c.701A>T ENSP00000496822.1:p.Tyr234Phe
ENST00000648381.1:n.869A>T
ENST00000648853.1:c.659A>T ENSP00000497262.1:p.Tyr220Phe
ENST00000649103.1:c.800A>T ENSP00000497962.1:n.800A>T
ENST00000650591.1:c.797A>T ENSP00000497376.1:p.Tyr266Phe
ENST00000394236.7:c.701A>T ENSP00000377783.3:p.Tyr234Phe
ENST00000407433.5:c.308A>T ENSP00000385794.1:p.Tyr103Phe
NM_000313.3:c.701A>T , LRG_572t1:c.701A>T NP_000304.2:p.Tyr234Phe
NM_001314077.1:c.797A>T , LRG_572t2:c.797A>T NP_001301006.1:p.Tyr266Phe
NM_000313.4:c.701A>T MANE Select NP_000304.2:p.Tyr234Phe
NM_001314077.2:c.797A>T NP_001301006.1:p.Tyr266Phe