Canonical Allele Identifier: CA353674718

Gene: PROS1

Linked Data

• gnomAD v4: 3-93927394-T-A
• MyVariant Identifiers: chr3:g.93646238T>A (hg19) ; chr3:g.93927394T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927394T>A , CM000665.2:g.93927394T>A	GRCh38
NC_000003.11:g.93646238T>A , CM000665.1:g.93646238T>A	GRCh37
NC_000003.10:g.95128928T>A	NCBI36
NG_009813.1:g.51697A>T , LRG_572:g.51697A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.90A>T	ENSP00000330021.7:p.Gln30His
ENST00000394236.9:c.90A>T MANE Select	ENSP00000377783.3:p.Gln30His
ENST00000407433.6:c.90A>T	ENSP00000385794.2:p.Gln30His
ENST00000472684.2:c.-304A>T	ENSP00000419616.2:n.-304A>T
ENST00000647936.1:c.90A>T	ENSP00000496822.1:p.Gln30His
ENST00000648381.1:n.258A>T
ENST00000648853.1:c.48A>T	ENSP00000497262.1:p.Gln16His
ENST00000649103.1:c.69A>T	ENSP00000497962.1:p.Gln23His
ENST00000650591.1:c.186A>T	ENSP00000497376.1:p.Gln62His
ENST00000348974.4:c.186A>T	ENSP00000330021.6:p.Gln62His
ENST00000394236.7:c.90A>T	ENSP00000377783.3:p.Gln30His
ENST00000407433.5:c.-304A>T	ENSP00000385794.1:n.-304A>T
ENST00000472684.1:c.-304A>T	ENSP00000419616.1:n.-304A>T
NM_000313.3:c.90A>T , LRG_572t1:c.90A>T	NP_000304.2:p.Gln30His
NM_001314077.1:c.186A>T , LRG_572t2:c.186A>T	NP_001301006.1:p.Gln62His
NM_000313.4:c.90A>T MANE Select	NP_000304.2:p.Gln30His
NM_001314077.2:c.186A>T	NP_001301006.1:p.Gln62His