Canonical Allele Identifier: CA353672321

Gene: PROS1

Linked Data

• gnomAD v4: 3-93893045-G-T
• MyVariant Identifiers: chr3:g.93611889G>T (hg19) ; chr3:g.93893045G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93893045G>T , CM000665.2:g.93893045G>T	GRCh38
NC_000003.11:g.93611889G>T , CM000665.1:g.93611889G>T	GRCh37
NC_000003.10:g.95094579G>T	NCBI36
NG_009813.1:g.86046C>A , LRG_572:g.86046C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.1043C>A	ENSP00000330021.7:p.Ala348Glu
ENST00000394236.9:c.1043C>A MANE Select	ENSP00000377783.3:p.Ala348Glu
ENST00000407433.6:c.998C>A	ENSP00000385794.2:p.Ala333Glu
ENST00000647936.1:c.1043C>A	ENSP00000496822.1:p.Ala348Glu
ENST00000648381.1:n.1211C>A
ENST00000648853.1:c.1001C>A	ENSP00000497262.1:p.Ala334Glu
ENST00000649103.1:c.1142C>A	ENSP00000497962.1:n.1142C>A
ENST00000650591.1:c.1139C>A	ENSP00000497376.1:p.Ala380Glu
ENST00000394236.7:c.1043C>A	ENSP00000377783.3:p.Ala348Glu
ENST00000407433.5:c.650C>A	ENSP00000385794.1:p.Ala217Glu
NM_000313.3:c.1043C>A , LRG_572t1:c.1043C>A	NP_000304.2:p.Ala348Glu
NM_001314077.1:c.1139C>A , LRG_572t2:c.1139C>A	NP_001301006.1:p.Ala380Glu
NM_000313.4:c.1043C>A MANE Select	NP_000304.2:p.Ala348Glu
NM_001314077.2:c.1139C>A	NP_001301006.1:p.Ala380Glu