Canonical Allele Identifier: CA1471368570
Gene: FGF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286524A= , CM000666.2:g.80286524A= GRCh38
NC_000004.11:g.81207678A= , CM000666.1:g.81207678A= GRCh37
NC_000004.10:g.81426702A= NCBI36
NG_029501.1:g.24937A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.659A= MANE Select ENSP00000311697.7:p.Lys220=
ENST00000312465.11:c.659A= ENSP00000311697.7:p.Lys220=
ENST00000456523.3:c.*183A= ENSP00000398353.3:n.*183A=
ENST00000503413.1:n.608A=
ENST00000507780.1:c.342+11512A= ENSP00000423903.1:n.342+11512A=
NM_001291812.1:c.230A= NP_001278741.1:p.Lys77=
NM_004464.3:c.659A= NP_004455.2:p.Lys220=
NM_033143.2:c.*183A= NP_149134.1:n.*183A=
NM_001291812.2:c.230A= NP_001278741.1:p.Lys77=
NM_004464.4:c.659A= MANE Select NP_004455.2:p.Lys220=