Canonical Allele Identifier: CA343132226
Community Standard Title: NM_000130.5(F5):c.987C>A (p.Cys329Ter)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169555313G>T , CM000663.2:g.169555313G>T GRCh38
NC_000001.10:g.169524551G>T , CM000663.1:g.169524551G>T GRCh37
NC_000001.9:g.167791175G>T NCBI36
NG_011806.1:g.36219C>A , LRG_553:g.36219C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.987C>A MANE Select NP_000121.2:p.Cys329Ter
ENST00000367797.9:c.987C>A MANE Select ENSP00000356771.3:p.Cys329Ter
NM_000130.4:c.987C>A , LRG_553t1:c.987C>A NP_000121.2:p.Cys329Ter
ENST00000367796.3:c.987C>A ENSP00000356770.3:p.Cys329Ter
ENST00000367797.7:c.987C>A ENSP00000356771.3:p.Cys329Ter
XM_017000660.2:c.576C>A XP_016856149.1:p.Cys192Ter