Canonical Allele Identifier: CA357398557
Gene: FGF5 HGNC NCBI

Linked Data

dbSNP Id: rs763406454

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286563T>A , CM000666.2:g.80286563T>A GRCh38
NC_000004.11:g.81207717T>A , CM000666.1:g.81207717T>A GRCh37
NC_000004.10:g.81426741T>A NCBI36
NG_029501.1:g.24976T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.698T>A MANE Select ENSP00000311697.7:p.Val233Asp
ENST00000312465.11:c.698T>A ENSP00000311697.7:p.Val233Asp
ENST00000456523.3:c.*222T>A ENSP00000398353.3:n.*222T>A
ENST00000503413.1:n.647T>A
ENST00000507780.1:c.342+11551T>A ENSP00000423903.1:n.342+11551T>A
NM_001291812.1:c.269T>A NP_001278741.1:p.Val90Asp
NM_004464.3:c.698T>A NP_004455.2:p.Val233Asp
NM_033143.2:c.*222T>A NP_149134.1:n.*222T>A
NM_001291812.2:c.269T>A NP_001278741.1:p.Val90Asp
NM_004464.4:c.698T>A MANE Select NP_004455.2:p.Val233Asp