Canonical Allele Identifier: CA353672288
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93893030G>A , CM000665.2:g.93893030G>A GRCh38
NC_000003.11:g.93611874G>A , CM000665.1:g.93611874G>A GRCh37
NC_000003.10:g.95094564G>A NCBI36
NG_009813.1:g.86061C>T , LRG_572:g.86061C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1058C>T ENSP00000330021.7:p.Ala353Val
ENST00000394236.9:c.1058C>T MANE Select ENSP00000377783.3:p.Ala353Val
ENST00000407433.6:c.1013C>T ENSP00000385794.2:p.Ala338Val
ENST00000647936.1:c.1058C>T ENSP00000496822.1:p.Ala353Val
ENST00000648381.1:n.1226C>T
ENST00000648853.1:c.1016C>T ENSP00000497262.1:p.Ala339Val
ENST00000649103.1:c.1157C>T ENSP00000497962.1:n.1157C>T
ENST00000650591.1:c.1154C>T ENSP00000497376.1:p.Ala385Val
ENST00000394236.7:c.1058C>T ENSP00000377783.3:p.Ala353Val
ENST00000407433.5:c.665C>T ENSP00000385794.1:p.Ala222Val
NM_000313.3:c.1058C>T , LRG_572t1:c.1058C>T NP_000304.2:p.Ala353Val
NM_001314077.1:c.1154C>T , LRG_572t2:c.1154C>T NP_001301006.1:p.Ala385Val
NM_000313.4:c.1058C>T MANE Select NP_000304.2:p.Ala353Val
NM_001314077.2:c.1154C>T NP_001301006.1:p.Ala385Val