Canonical Allele Identifier: CA353672593

Gene: PROS1

Linked Data

• gnomAD v4: 3-93896618-C-T
• MyVariant Identifiers: chr3:g.93615462C>T (hg19) ; chr3:g.93896618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896618C>T , CM000665.2:g.93896618C>T	GRCh38
NC_000003.11:g.93615462C>T , CM000665.1:g.93615462C>T	GRCh37
NC_000003.10:g.95098152C>T	NCBI36
NG_009813.1:g.82473G>A , LRG_572:g.82473G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.923G>A	ENSP00000330021.7:p.Gly308Glu
ENST00000394236.9:c.923G>A MANE Select	ENSP00000377783.3:p.Gly308Glu
ENST00000407433.6:c.878G>A	ENSP00000385794.2:p.Gly293Glu
ENST00000647936.1:c.923G>A	ENSP00000496822.1:p.Gly308Glu
ENST00000648381.1:n.1091G>A
ENST00000648853.1:c.881G>A	ENSP00000497262.1:p.Gly294Glu
ENST00000649103.1:c.1022G>A	ENSP00000497962.1:n.1022G>A
ENST00000650591.1:c.1019G>A	ENSP00000497376.1:p.Gly340Glu
ENST00000394236.7:c.923G>A	ENSP00000377783.3:p.Gly308Glu
ENST00000407433.5:c.530G>A	ENSP00000385794.1:p.Gly177Glu
NM_000313.3:c.923G>A , LRG_572t1:c.923G>A	NP_000304.2:p.Gly308Glu
NM_001314077.1:c.1019G>A , LRG_572t2:c.1019G>A	NP_001301006.1:p.Gly340Glu
NM_000313.4:c.923G>A MANE Select	NP_000304.2:p.Gly308Glu
NM_001314077.2:c.1019G>A	NP_001301006.1:p.Gly340Glu