Canonical Allele Identifier: CA353673049

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93617412A>C (hg19) ; chr3:g.93898568A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93898568A>C , CM000665.2:g.93898568A>C	GRCh38
NC_000003.11:g.93617412A>C , CM000665.1:g.93617412A>C	GRCh37
NC_000003.10:g.95100102A>C	NCBI36
NG_009813.1:g.80523T>G , LRG_572:g.80523T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.729T>G	ENSP00000330021.7:p.Asp243Glu
ENST00000394236.9:c.729T>G MANE Select	ENSP00000377783.3:p.Asp243Glu
ENST00000407433.6:c.684T>G	ENSP00000385794.2:p.Asp228Glu
ENST00000647936.1:c.729T>G	ENSP00000496822.1:p.Asp243Glu
ENST00000648381.1:n.897T>G
ENST00000648853.1:c.687T>G	ENSP00000497262.1:p.Asp229Glu
ENST00000649103.1:c.828T>G	ENSP00000497962.1:n.828T>G
ENST00000650591.1:c.825T>G	ENSP00000497376.1:p.Asp275Glu
ENST00000394236.7:c.729T>G	ENSP00000377783.3:p.Asp243Glu
ENST00000407433.5:c.336T>G	ENSP00000385794.1:p.Asp112Glu
NM_000313.3:c.729T>G , LRG_572t1:c.729T>G	NP_000304.2:p.Asp243Glu
NM_001314077.1:c.825T>G , LRG_572t2:c.825T>G	NP_001301006.1:p.Asp275Glu
NM_000313.4:c.729T>G MANE Select	NP_000304.2:p.Asp243Glu
NM_001314077.2:c.825T>G	NP_001301006.1:p.Asp275Glu