Canonical Allele Identifier: CA413244735
Gene: FGD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465770C>T , CM000685.2:g.54465770C>T GRCh38
NC_000023.10:g.54492203C>T , CM000685.1:g.54492203C>T GRCh37
NC_000023.9:g.54508928C>T NCBI36
NG_008054.1:g.35397G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1423G>A MANE Select ENSP00000364277.3:p.Asp475Asn
ENST00000375135.3:c.1423G>A ENSP00000364277.3:p.Asp475Asn
NM_004463.2:c.1423G>A NP_004454.2:p.Asp475Asn
NM_004463.3:c.1423G>A MANE Select NP_004454.2:p.Asp475Asn