Canonical Allele Identifier: CA353674612

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93646185T>G (hg19) ; chr3:g.93927341T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927341T>G , CM000665.2:g.93927341T>G	GRCh38
NC_000003.11:g.93646185T>G , CM000665.1:g.93646185T>G	GRCh37
NC_000003.10:g.95128875T>G	NCBI36
NG_009813.1:g.51750A>C , LRG_572:g.51750A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.143A>C	ENSP00000330021.7:p.Glu48Ala
ENST00000394236.9:c.143A>C MANE Select	ENSP00000377783.3:p.Glu48Ala
ENST00000407433.6:c.143A>C	ENSP00000385794.2:p.Glu48Ala
ENST00000472684.2:c.-251A>C	ENSP00000419616.2:n.-251A>C
ENST00000647936.1:c.143A>C	ENSP00000496822.1:p.Glu48Ala
ENST00000648381.1:n.311A>C
ENST00000648853.1:c.101A>C	ENSP00000497262.1:p.Glu34Ala
ENST00000649103.1:c.122A>C	ENSP00000497962.1:p.Glu41Ala
ENST00000650591.1:c.239A>C	ENSP00000497376.1:p.Glu80Ala
ENST00000348974.4:c.239A>C	ENSP00000330021.6:p.Glu80Ala
ENST00000394236.7:c.143A>C	ENSP00000377783.3:p.Glu48Ala
ENST00000407433.5:c.-251A>C	ENSP00000385794.1:n.-251A>C
ENST00000472684.1:c.-251A>C	ENSP00000419616.1:n.-251A>C
NM_000313.3:c.143A>C , LRG_572t1:c.143A>C	NP_000304.2:p.Glu48Ala
NM_001314077.1:c.239A>C , LRG_572t2:c.239A>C	NP_001301006.1:p.Glu80Ala
NM_000313.4:c.143A>C MANE Select	NP_000304.2:p.Glu48Ala
NM_001314077.2:c.239A>C	NP_001301006.1:p.Glu80Ala