Canonical Allele Identifier: CA357397078
Gene: FGF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286381T>A , CM000666.2:g.80286381T>A GRCh38
NC_000004.11:g.81207535T>A , CM000666.1:g.81207535T>A GRCh37
NC_000004.10:g.81426559T>A NCBI36
NG_029501.1:g.24794T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.516T>A MANE Select ENSP00000311697.7:p.Asn172Lys
ENST00000312465.11:c.516T>A ENSP00000311697.7:p.Asn172Lys
ENST00000456523.3:c.*40T>A ENSP00000398353.3:n.*40T>A
ENST00000503413.1:n.465T>A
ENST00000507780.1:c.342+11369T>A ENSP00000423903.1:n.342+11369T>A
NM_001291812.1:c.87T>A NP_001278741.1:p.Asn29Lys
NM_004464.3:c.516T>A NP_004455.2:p.Asn172Lys
NM_033143.2:c.*40T>A NP_149134.1:n.*40T>A
NM_001291812.2:c.87T>A NP_001278741.1:p.Asn29Lys
NM_004464.4:c.516T>A MANE Select NP_004455.2:p.Asn172Lys