Canonical Allele Identifier: CA328946598
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs867683841
gnomAD v4: X-54495209-C-A
MyVariant Identifiers: chrX:g.54521642C>A (hg19) chrX:g.54495209C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495209C>A , CM000685.2:g.54495209C>A GRCh38
NC_000023.10:g.54521642C>A , CM000685.1:g.54521642C>A GRCh37
NC_000023.9:g.54538367C>A NCBI36
NG_008054.1:g.5958G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.224G>T MANE Select ENSP00000364277.3:p.Arg75Leu
ENST00000375135.3:c.224G>T ENSP00000364277.3:p.Arg75Leu
NM_004463.2:c.224G>T NP_004454.2:p.Arg75Leu
NM_004463.3:c.224G>T MANE Select NP_004454.2:p.Arg75Leu
Search 100 bp 5'
Search 100 bp 3'