Canonical Allele Identifier: CA343141833
Community Standard Title: NM_000130.5(F5):c.373+1G>A
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169572220C>T , CM000663.2:g.169572220C>T GRCh38
NC_000001.10:g.169541458C>T , CM000663.1:g.169541458C>T GRCh37
NC_000001.9:g.167808082C>T NCBI36
NG_011806.1:g.19312G>A , LRG_553:g.19312G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.373+1G>A MANE Select NP_000121.2:n.373+1G>A
ENST00000367797.9:c.373+1G>A MANE Select ENSP00000356771.3:n.373+1G>A
NM_000130.4:c.373+1G>A , LRG_553t1:c.373+1G>A NP_000121.2:n.373+1G>A
ENST00000367796.3:c.373+1G>A ENSP00000356770.3:n.373+1G>A
ENST00000367797.7:c.373+1G>A ENSP00000356771.3:n.373+1G>A
XM_017000660.2:c.-39+1G>A XP_016856149.1:n.-39+1G>A