Canonical Allele Identifier: CA357399051
Gene: FGF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.81207770G>A (hg19) chr4:g.80286616G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286616G>A , CM000666.2:g.80286616G>A GRCh38
NC_000004.11:g.81207770G>A , CM000666.1:g.81207770G>A GRCh37
NC_000004.10:g.81426794G>A NCBI36
NG_029501.1:g.25029G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.751G>A MANE Select ENSP00000311697.7:p.Ala251Thr
ENST00000312465.11:c.751G>A ENSP00000311697.7:p.Ala251Thr
ENST00000456523.3:c.*275G>A ENSP00000398353.3:n.*275G>A
ENST00000503413.1:n.700G>A
ENST00000507780.1:c.342+11604G>A ENSP00000423903.1:n.342+11604G>A
NM_001291812.1:c.322G>A NP_001278741.1:p.Ala108Thr
NM_004464.3:c.751G>A NP_004455.2:p.Ala251Thr
NM_033143.2:c.*275G>A NP_149134.1:n.*275G>A
NM_001291812.2:c.322G>A NP_001278741.1:p.Ala108Thr
NM_004464.4:c.751G>A MANE Select NP_004455.2:p.Ala251Thr
Search 100 bp 5'
Search 100 bp 3'