Canonical Allele Identifier: CA413254425
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495145-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495145C>A , CM000685.2:g.54495145C>A GRCh38
NC_000023.10:g.54521578C>A , CM000685.1:g.54521578C>A GRCh37
NC_000023.9:g.54538303C>A NCBI36
NG_008054.1:g.6022G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.288G>T MANE Select ENSP00000364277.3:p.Glu96Asp
ENST00000375135.3:c.288G>T ENSP00000364277.3:p.Glu96Asp
NM_004463.2:c.288G>T NP_004454.2:p.Glu96Asp
NM_004463.3:c.288G>T MANE Select NP_004454.2:p.Glu96Asp