Canonical Allele Identifier: CA1471368440
Gene: FGF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286437C= , CM000666.2:g.80286437C= GRCh38
NC_000004.11:g.81207591C= , CM000666.1:g.81207591C= GRCh37
NC_000004.10:g.81426615C= NCBI36
NG_029501.1:g.24850C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.572C= MANE Select ENSP00000311697.7:p.Ala191=
ENST00000312465.11:c.572C= ENSP00000311697.7:p.Ala191=
ENST00000456523.3:c.*96C= ENSP00000398353.3:n.*96C=
ENST00000503413.1:n.521C=
ENST00000507780.1:c.342+11425C= ENSP00000423903.1:n.342+11425C=
NM_001291812.1:c.143C= NP_001278741.1:p.Ala48=
NM_004464.3:c.572C= NP_004455.2:p.Ala191=
NM_033143.2:c.*96C= NP_149134.1:n.*96C=
NM_001291812.2:c.143C= NP_001278741.1:p.Ala48=
NM_004464.4:c.572C= MANE Select NP_004455.2:p.Ala191=