Canonical Allele Identifier: CA1233520
Community Standard Title: NM_000130.5(F5):c.5370T>A (p.Ser1790Arg)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169529657A>T , CM000663.2:g.169529657A>T GRCh38
NC_000001.10:g.169498895A>T , CM000663.1:g.169498895A>T GRCh37
NC_000001.9:g.167765519A>T NCBI36
NG_011806.1:g.61875T>A , LRG_553:g.61875T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.5370T>A MANE Select NP_000121.2:p.Ser1790Arg
ENST00000367797.9:c.5370T>A MANE Select ENSP00000356771.3:p.Ser1790Arg
NM_000130.4:c.5370T>A , LRG_553t1:c.5370T>A NP_000121.2:p.Ser1790Arg
ENST00000367796.3:c.5385T>A ENSP00000356770.3:p.Ser1795Arg
ENST00000367797.7:c.5370T>A ENSP00000356771.3:p.Ser1790Arg
XM_017000660.2:c.4959T>A XP_016856149.1:p.Ser1653Arg