Canonical Allele Identifier: CA1234738
Community Standard Title: NM_000130.5(F5):c.106G>A (p.Val36Met)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169586281C>T , CM000663.2:g.169586281C>T GRCh38
NC_000001.10:g.169555519C>T , CM000663.1:g.169555519C>T GRCh37
NC_000001.9:g.167822143C>T NCBI36
NG_011806.1:g.5251G>A , LRG_553:g.5251G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.106G>A MANE Select NP_000121.2:p.Val36Met
ENST00000367797.9:c.106G>A MANE Select ENSP00000356771.3:p.Val36Met
NM_000130.4:c.106G>A , LRG_553t1:c.106G>A NP_000121.2:p.Val36Met
ENST00000367796.3:c.106G>A ENSP00000356770.3:p.Val36Met
ENST00000367797.7:c.106G>A ENSP00000356771.3:p.Val36Met
XM_017000660.2:c.-214G>A XP_016856149.1:n.-214G>A