Canonical Allele Identifier: CA353673005
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93898550C>A , CM000665.2:g.93898550C>A GRCh38
NC_000003.11:g.93617394C>A , CM000665.1:g.93617394C>A GRCh37
NC_000003.10:g.95100084C>A NCBI36
NG_009813.1:g.80541G>T , LRG_572:g.80541G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.747G>T ENSP00000330021.7:p.Glu249Asp
ENST00000394236.9:c.747G>T MANE Select ENSP00000377783.3:p.Glu249Asp
ENST00000407433.6:c.702G>T ENSP00000385794.2:p.Glu234Asp
ENST00000647936.1:c.747G>T ENSP00000496822.1:p.Glu249Asp
ENST00000648381.1:n.915G>T
ENST00000648853.1:c.705G>T ENSP00000497262.1:p.Glu235Asp
ENST00000649103.1:c.846G>T ENSP00000497962.1:n.846G>T
ENST00000650591.1:c.843G>T ENSP00000497376.1:p.Glu281Asp
ENST00000394236.7:c.747G>T ENSP00000377783.3:p.Glu249Asp
ENST00000407433.5:c.354G>T ENSP00000385794.1:p.Glu118Asp
NM_000313.3:c.747G>T , LRG_572t1:c.747G>T NP_000304.2:p.Glu249Asp
NM_001314077.1:c.843G>T , LRG_572t2:c.843G>T NP_001301006.1:p.Glu281Asp
NM_000313.4:c.747G>T MANE Select NP_000304.2:p.Glu249Asp
NM_001314077.2:c.843G>T NP_001301006.1:p.Glu281Asp