Canonical Allele Identifier: CA353673414

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93624651A>T (hg19) ; chr3:g.93905807A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93905807A>T , CM000665.2:g.93905807A>T	GRCh38
NC_000003.11:g.93624651A>T , CM000665.1:g.93624651A>T	GRCh37
NC_000003.10:g.95107341A>T	NCBI36
NG_009813.1:g.73284T>A , LRG_572:g.73284T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.578T>A	ENSP00000330021.7:p.Leu193His
ENST00000394236.9:c.578T>A MANE Select	ENSP00000377783.3:p.Leu193His
ENST00000407433.6:c.556+22T>A	ENSP00000385794.2:n.556+22T>A
ENST00000647936.1:c.578T>A	ENSP00000496822.1:p.Leu193His
ENST00000648381.1:n.746T>A
ENST00000648853.1:c.536T>A	ENSP00000497262.1:p.Leu179His
ENST00000649103.1:c.677T>A	ENSP00000497962.1:n.677T>A
ENST00000650591.1:c.674T>A	ENSP00000497376.1:p.Leu225His
ENST00000348974.4:c.674T>A	ENSP00000330021.6:p.Leu225His
ENST00000394236.7:c.578T>A	ENSP00000377783.3:p.Leu193His
ENST00000407433.5:c.185T>A	ENSP00000385794.1:p.Leu62His
NM_000313.3:c.578T>A , LRG_572t1:c.578T>A	NP_000304.2:p.Leu193His
NM_001314077.1:c.674T>A , LRG_572t2:c.674T>A	NP_001301006.1:p.Leu225His
NM_000313.4:c.578T>A MANE Select	NP_000304.2:p.Leu193His
NM_001314077.2:c.674T>A	NP_001301006.1:p.Leu225His