Canonical Allele Identifier: CA413254509
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495185-G-A
MyVariant Identifiers: chrX:g.54521618G>A (hg19) chrX:g.54495185G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495185G>A , CM000685.2:g.54495185G>A GRCh38
NC_000023.10:g.54521618G>A , CM000685.1:g.54521618G>A GRCh37
NC_000023.9:g.54538343G>A NCBI36
NG_008054.1:g.5982C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.248C>T MANE Select ENSP00000364277.3:p.Pro83Leu
ENST00000375135.3:c.248C>T ENSP00000364277.3:p.Pro83Leu
NM_004463.2:c.248C>T NP_004454.2:p.Pro83Leu
NM_004463.3:c.248C>T MANE Select NP_004454.2:p.Pro83Leu
Search 100 bp 5'
Search 100 bp 3'