Canonical Allele Identifier: CA357396806
Gene: FGF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286356A>T , CM000666.2:g.80286356A>T GRCh38
NC_000004.11:g.81207510A>T , CM000666.1:g.81207510A>T GRCh37
NC_000004.10:g.81426534A>T NCBI36
NG_029501.1:g.24769A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.491A>T MANE Select ENSP00000311697.7:p.Glu164Val
ENST00000312465.11:c.491A>T ENSP00000311697.7:p.Glu164Val
ENST00000456523.3:c.*15A>T ENSP00000398353.3:n.*15A>T
ENST00000503413.1:n.440A>T
ENST00000507780.1:c.342+11344A>T ENSP00000423903.1:n.342+11344A>T
NM_001291812.1:c.62A>T NP_001278741.1:p.Glu21Val
NM_004464.3:c.491A>T NP_004455.2:p.Glu164Val
NM_033143.2:c.*15A>T NP_149134.1:n.*15A>T
NM_001291812.2:c.62A>T NP_001278741.1:p.Glu21Val
NM_004464.4:c.491A>T MANE Select NP_004455.2:p.Glu164Val