Canonical Allele Identifier: CA357398871
Gene: FGF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286596A>G , CM000666.2:g.80286596A>G GRCh38
NC_000004.11:g.81207750A>G , CM000666.1:g.81207750A>G GRCh37
NC_000004.10:g.81426774A>G NCBI36
NG_029501.1:g.25009A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.731A>G MANE Select ENSP00000311697.7:p.Lys244Arg
ENST00000312465.11:c.731A>G ENSP00000311697.7:p.Lys244Arg
ENST00000456523.3:c.*255A>G ENSP00000398353.3:n.*255A>G
ENST00000503413.1:n.680A>G
ENST00000507780.1:c.342+11584A>G ENSP00000423903.1:n.342+11584A>G
NM_001291812.1:c.302A>G NP_001278741.1:p.Lys101Arg
NM_004464.3:c.731A>G NP_004455.2:p.Lys244Arg
NM_033143.2:c.*255A>G NP_149134.1:n.*255A>G
NM_001291812.2:c.302A>G NP_001278741.1:p.Lys101Arg
NM_004464.4:c.731A>G MANE Select NP_004455.2:p.Lys244Arg