Canonical Allele Identifier: CA544751922

Gene: PROS1

Linked Data

• dbSNP Id: rs1228429370
• gnomAD v2: 3-93624322-A-T
• gnomAD v3: 3-93905478-A-T
• gnomAD v4: 3-93905478-A-T
• MyVariant Identifiers: chr3:g.93624322A>T (hg19) ; chr3:g.93905478A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93905478A>T , CM000665.2:g.93905478A>T	GRCh38
NC_000003.11:g.93624322A>T , CM000665.1:g.93624322A>T	GRCh37
NC_000003.10:g.95107012A>T	NCBI36
NG_009813.1:g.73613T>A , LRG_572:g.73613T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.601+306T>A	ENSP00000330021.7:n.601+306T>A
ENST00000394236.9:c.601+306T>A MANE Select	ENSP00000377783.3:n.601+306T>A
ENST00000407433.6:c.556+351T>A	ENSP00000385794.2:n.556+351T>A
ENST00000647936.1:c.601+306T>A	ENSP00000496822.1:n.601+306T>A
ENST00000648381.1:n.769+306T>A
ENST00000648853.1:c.559+306T>A	ENSP00000497262.1:n.559+306T>A
ENST00000649103.1:c.700+306T>A	ENSP00000497962.1:n.700+306T>A
ENST00000650591.1:c.697+306T>A	ENSP00000497376.1:n.697+306T>A
ENST00000394236.7:c.601+306T>A	ENSP00000377783.3:n.601+306T>A
ENST00000407433.5:c.208+306T>A	ENSP00000385794.1:n.208+306T>A
NM_000313.3:c.601+306T>A , LRG_572t1:c.601+306T>A	NP_000304.2:n.601+306T>A
NM_001314077.1:c.697+306T>A , LRG_572t2:c.697+306T>A	NP_001301006.1:n.697+306T>A
NM_000313.4:c.601+306T>A MANE Select	NP_000304.2:n.601+306T>A
NM_001314077.2:c.697+306T>A	NP_001301006.1:n.697+306T>A