Canonical Allele Identifier: CA353669290

Gene: PROS1

Linked Data

• gnomAD v4: 3-93874250-A-C
• MyVariant Identifiers: chr3:g.93593094A>C (hg19) ; chr3:g.93874250A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874250A>C , CM000665.2:g.93874250A>C	GRCh38
NC_000003.11:g.93593094A>C , CM000665.1:g.93593094A>C	GRCh37
NC_000003.10:g.95075784A>C	NCBI36
NG_009813.1:g.104841T>G , LRG_572:g.104841T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.2026T>G	ENSP00000330021.7:p.Ser676Ala
ENST00000394236.9:c.2026T>G MANE Select	ENSP00000377783.3:p.Ser676Ala
ENST00000407433.6:c.1981T>G	ENSP00000385794.2:p.Ser661Ala
ENST00000647936.1:c.*129T>G	ENSP00000496822.1:n.*129T>G
ENST00000648381.1:n.2194T>G
ENST00000648853.1:c.1984T>G	ENSP00000497262.1:p.Ser662Ala
ENST00000650591.1:c.2122T>G	ENSP00000497376.1:p.Ser708Ala
ENST00000394236.7:c.2026T>G	ENSP00000377783.3:p.Ser676Ala
ENST00000407433.5:c.1633T>G	ENSP00000385794.1:p.Ser545Ala
NM_000313.3:c.2026T>G , LRG_572t1:c.2026T>G	NP_000304.2:p.Ser676Ala
NM_001314077.1:c.2122T>G , LRG_572t2:c.2122T>G	NP_001301006.1:p.Ser708Ala
NM_000313.4:c.2026T>G MANE Select	NP_000304.2:p.Ser676Ala
NM_001314077.2:c.2122T>G	NP_001301006.1:p.Ser708Ala