Canonical Allele Identifier: CA1471368428
Gene: FGF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286427T= , CM000666.2:g.80286427T= GRCh38
NC_000004.11:g.81207581T= , CM000666.1:g.81207581T= GRCh37
NC_000004.10:g.81426605T= NCBI36
NG_029501.1:g.24840T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.562T= MANE Select ENSP00000311697.7:p.Trp188=
ENST00000312465.11:c.562T= ENSP00000311697.7:p.Trp188=
ENST00000456523.3:c.*86T= ENSP00000398353.3:n.*86T=
ENST00000503413.1:n.511T=
ENST00000507780.1:c.342+11415T= ENSP00000423903.1:n.342+11415T=
NM_001291812.1:c.133T= NP_001278741.1:p.Trp45=
NM_004464.3:c.562T= NP_004455.2:p.Trp188=
NM_033143.2:c.*86T= NP_149134.1:n.*86T=
NM_001291812.2:c.133T= NP_001278741.1:p.Trp45=
NM_004464.4:c.562T= MANE Select NP_004455.2:p.Trp188=