Canonical Allele Identifier: CA353671003

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93595889A>C (hg19) ; chr3:g.93877045A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877045A>C , CM000665.2:g.93877045A>C	GRCh38
NC_000003.11:g.93595889A>C , CM000665.1:g.93595889A>C	GRCh37
NC_000003.10:g.95078579A>C	NCBI36
NG_009813.1:g.102046T>G , LRG_572:g.102046T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1791T>G	ENSP00000330021.7:p.His597Gln
ENST00000394236.9:c.1791T>G MANE Select	ENSP00000377783.3:p.His597Gln
ENST00000407433.6:c.1746T>G	ENSP00000385794.2:p.His582Gln
ENST00000647936.1:c.1644+2118T>G	ENSP00000496822.1:n.1644+2118T>G
ENST00000648381.1:n.1959T>G
ENST00000648853.1:c.1749T>G	ENSP00000497262.1:p.His583Gln
ENST00000649585.1:c.734T>G	ENSP00000498163.1:n.734T>G
ENST00000650591.1:c.1887T>G	ENSP00000497376.1:p.His629Gln
ENST00000394236.7:c.1791T>G	ENSP00000377783.3:p.His597Gln
ENST00000407433.5:c.1398T>G	ENSP00000385794.1:p.His466Gln
NM_000313.3:c.1791T>G , LRG_572t1:c.1791T>G	NP_000304.2:p.His597Gln
NM_001314077.1:c.1887T>G , LRG_572t2:c.1887T>G	NP_001301006.1:p.His629Gln
NM_000313.4:c.1791T>G MANE Select	NP_000304.2:p.His597Gln
NM_001314077.2:c.1887T>G	NP_001301006.1:p.His629Gln