Canonical Allele Identifier: CA343123543
Community Standard Title: NM_000130.5(F5):c.5789-1G>T
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169523905C>A , CM000663.2:g.169523905C>A GRCh38
NC_000001.10:g.169493143C>A , CM000663.1:g.169493143C>A GRCh37
NC_000001.9:g.167759767C>A NCBI36
NG_011806.1:g.67627G>T , LRG_553:g.67627G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.5789-1G>T MANE Select NP_000121.2:n.5789-1G>T
ENST00000367797.9:c.5789-1G>T MANE Select ENSP00000356771.3:n.5789-1G>T
NM_000130.4:c.5789-1G>T , LRG_553t1:c.5789-1G>T NP_000121.2:n.5789-1G>T
ENST00000367796.3:c.5804-1G>T ENSP00000356770.3:n.5804-1G>T
ENST00000367797.7:c.5789-1G>T ENSP00000356771.3:n.5789-1G>T
XM_017000660.2:c.5378-1G>T XP_016856149.1:n.5378-1G>T