Canonical Allele Identifier: CA357397285
Gene: FGF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286400C>T , CM000666.2:g.80286400C>T GRCh38
NC_000004.11:g.81207554C>T , CM000666.1:g.81207554C>T GRCh37
NC_000004.10:g.81426578C>T NCBI36
NG_029501.1:g.24813C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.535C>T MANE Select ENSP00000311697.7:p.His179Tyr
ENST00000312465.11:c.535C>T ENSP00000311697.7:p.His179Tyr
ENST00000456523.3:c.*59C>T ENSP00000398353.3:n.*59C>T
ENST00000503413.1:n.484C>T
ENST00000507780.1:c.342+11388C>T ENSP00000423903.1:n.342+11388C>T
NM_001291812.1:c.106C>T NP_001278741.1:p.His36Tyr
NM_004464.3:c.535C>T NP_004455.2:p.His179Tyr
NM_033143.2:c.*59C>T NP_149134.1:n.*59C>T
NM_001291812.2:c.106C>T NP_001278741.1:p.His36Tyr
NM_004464.4:c.535C>T MANE Select NP_004455.2:p.His179Tyr