Canonical Allele Identifier: CA353673243

Gene: PROS1

Linked Data

• gnomAD v4: 3-93900882-A-G
• MyVariant Identifiers: chr3:g.93619726A>G (hg19) ; chr3:g.93900882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900882A>G , CM000665.2:g.93900882A>G	GRCh38
NC_000003.11:g.93619726A>G , CM000665.1:g.93619726A>G	GRCh37
NC_000003.10:g.95102416A>G	NCBI36
NG_009813.1:g.78209T>C , LRG_572:g.78209T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.649T>C	ENSP00000330021.7:p.Cys217Arg
ENST00000394236.9:c.649T>C MANE Select	ENSP00000377783.3:p.Cys217Arg
ENST00000407433.6:c.604T>C	ENSP00000385794.2:p.Cys202Arg
ENST00000647936.1:c.649T>C	ENSP00000496822.1:p.Cys217Arg
ENST00000648381.1:n.817T>C
ENST00000648853.1:c.607T>C	ENSP00000497262.1:p.Cys203Arg
ENST00000649103.1:c.748T>C	ENSP00000497962.1:n.748T>C
ENST00000650591.1:c.745T>C	ENSP00000497376.1:p.Cys249Arg
ENST00000394236.7:c.649T>C	ENSP00000377783.3:p.Cys217Arg
ENST00000407433.5:c.256T>C	ENSP00000385794.1:p.Cys86Arg
NM_000313.3:c.649T>C , LRG_572t1:c.649T>C	NP_000304.2:p.Cys217Arg
NM_001314077.1:c.745T>C , LRG_572t2:c.745T>C	NP_001301006.1:p.Cys249Arg
NM_000313.4:c.649T>C MANE Select	NP_000304.2:p.Cys217Arg
NM_001314077.2:c.745T>C	NP_001301006.1:p.Cys249Arg