Canonical Allele Identifier: CA353672647

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93615486A>T (hg19) ; chr3:g.93896642A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896642A>T , CM000665.2:g.93896642A>T	GRCh38
NC_000003.11:g.93615486A>T , CM000665.1:g.93615486A>T	GRCh37
NC_000003.10:g.95098176A>T	NCBI36
NG_009813.1:g.82449T>A , LRG_572:g.82449T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.899T>A	ENSP00000330021.7:p.Leu300His
ENST00000394236.9:c.899T>A MANE Select	ENSP00000377783.3:p.Leu300His
ENST00000407433.6:c.854T>A	ENSP00000385794.2:p.Leu285His
ENST00000647936.1:c.899T>A	ENSP00000496822.1:p.Leu300His
ENST00000648381.1:n.1067T>A
ENST00000648853.1:c.857T>A	ENSP00000497262.1:p.Leu286His
ENST00000649103.1:c.998T>A	ENSP00000497962.1:n.998T>A
ENST00000650591.1:c.995T>A	ENSP00000497376.1:p.Leu332His
ENST00000394236.7:c.899T>A	ENSP00000377783.3:p.Leu300His
ENST00000407433.5:c.506T>A	ENSP00000385794.1:p.Leu169His
NM_000313.3:c.899T>A , LRG_572t1:c.899T>A	NP_000304.2:p.Leu300His
NM_001314077.1:c.995T>A , LRG_572t2:c.995T>A	NP_001301006.1:p.Leu332His
NM_000313.4:c.899T>A MANE Select	NP_000304.2:p.Leu300His
NM_001314077.2:c.995T>A	NP_001301006.1:p.Leu332His