Canonical Allele Identifier: CA353674624
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93927347A>C , CM000665.2:g.93927347A>C GRCh38
NC_000003.11:g.93646191A>C , CM000665.1:g.93646191A>C GRCh37
NC_000003.10:g.95128881A>C NCBI36
NG_009813.1:g.51744T>G , LRG_572:g.51744T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.137T>G ENSP00000330021.7:p.Leu46Arg
ENST00000394236.9:c.137T>G MANE Select ENSP00000377783.3:p.Leu46Arg
ENST00000407433.6:c.137T>G ENSP00000385794.2:p.Leu46Arg
ENST00000472684.2:c.-257T>G ENSP00000419616.2:n.-257T>G
ENST00000647936.1:c.137T>G ENSP00000496822.1:p.Leu46Arg
ENST00000648381.1:n.305T>G
ENST00000648853.1:c.95T>G ENSP00000497262.1:p.Leu32Arg
ENST00000649103.1:c.116T>G ENSP00000497962.1:p.Leu39Arg
ENST00000650591.1:c.233T>G ENSP00000497376.1:p.Leu78Arg
ENST00000348974.4:c.233T>G ENSP00000330021.6:p.Leu78Arg
ENST00000394236.7:c.137T>G ENSP00000377783.3:p.Leu46Arg
ENST00000407433.5:c.-257T>G ENSP00000385794.1:n.-257T>G
ENST00000472684.1:c.-257T>G ENSP00000419616.1:n.-257T>G
NM_000313.3:c.137T>G , LRG_572t1:c.137T>G NP_000304.2:p.Leu46Arg
NM_001314077.1:c.233T>G , LRG_572t2:c.233T>G NP_001301006.1:p.Leu78Arg
NM_000313.4:c.137T>G MANE Select NP_000304.2:p.Leu46Arg
NM_001314077.2:c.233T>G NP_001301006.1:p.Leu78Arg