Canonical Allele Identifier: CA1471368701
Gene: FGF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286617C= , CM000666.2:g.80286617C= GRCh38
NC_000004.11:g.81207771C= , CM000666.1:g.81207771C= GRCh37
NC_000004.10:g.81426795C= NCBI36
NG_029501.1:g.25030C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.752C= MANE Select ENSP00000311697.7:p.Ala251=
ENST00000312465.11:c.752C= ENSP00000311697.7:p.Ala251=
ENST00000456523.3:c.*276C= ENSP00000398353.3:n.*276C=
ENST00000503413.1:n.701C=
ENST00000507780.1:c.342+11605C= ENSP00000423903.1:n.342+11605C=
NM_001291812.1:c.323C= NP_001278741.1:p.Ala108=
NM_004464.3:c.752C= NP_004455.2:p.Ala251=
NM_033143.2:c.*276C= NP_149134.1:n.*276C=
NM_001291812.2:c.323C= NP_001278741.1:p.Ala108=
NM_004464.4:c.752C= MANE Select NP_004455.2:p.Ala251=