Canonical Allele Identifier: CA357399031
Gene: FGF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286613T>A , CM000666.2:g.80286613T>A GRCh38
NC_000004.11:g.81207767T>A , CM000666.1:g.81207767T>A GRCh37
NC_000004.10:g.81426791T>A NCBI36
NG_029501.1:g.25026T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.748T>A MANE Select ENSP00000311697.7:p.Ser250Thr
ENST00000312465.11:c.748T>A ENSP00000311697.7:p.Ser250Thr
ENST00000456523.3:c.*272T>A ENSP00000398353.3:n.*272T>A
ENST00000503413.1:n.697T>A
ENST00000507780.1:c.342+11601T>A ENSP00000423903.1:n.342+11601T>A
NM_001291812.1:c.319T>A NP_001278741.1:p.Ser107Thr
NM_004464.3:c.748T>A NP_004455.2:p.Ser250Thr
NM_033143.2:c.*272T>A NP_149134.1:n.*272T>A
NM_001291812.2:c.319T>A NP_001278741.1:p.Ser107Thr
NM_004464.4:c.748T>A MANE Select NP_004455.2:p.Ser250Thr