Canonical Allele Identifier: CA357399094
Gene: FGF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286623G>T , CM000666.2:g.80286623G>T GRCh38
NC_000004.11:g.81207777G>T , CM000666.1:g.81207777G>T GRCh37
NC_000004.10:g.81426801G>T NCBI36
NG_029501.1:g.25036G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.758G>T MANE Select ENSP00000311697.7:p.Arg253Leu
ENST00000312465.11:c.758G>T ENSP00000311697.7:p.Arg253Leu
ENST00000456523.3:c.*282G>T ENSP00000398353.3:n.*282G>T
ENST00000503413.1:n.707G>T
ENST00000507780.1:c.342+11611G>T ENSP00000423903.1:n.342+11611G>T
NM_001291812.1:c.329G>T NP_001278741.1:p.Arg110Leu
NM_004464.3:c.758G>T NP_004455.2:p.Arg253Leu
NM_033143.2:c.*282G>T NP_149134.1:n.*282G>T
NM_001291812.2:c.329G>T NP_001278741.1:p.Arg110Leu
NM_004464.4:c.758G>T MANE Select NP_004455.2:p.Arg253Leu