Canonical Allele Identifier: CA516574670
Gene: FGD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.54521605C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495172C>G , CM000685.2:g.54495172C>G GRCh38
NC_000023.10:g.54521605C>G , CM000685.1:g.54521605C>G GRCh37
NC_000023.9:g.54538330C>G NCBI36
NG_008054.1:g.5995G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.261G>C MANE Select ENSP00000364277.3:p.Arg87=
ENST00000375135.3:c.261G>C ENSP00000364277.3:p.Arg87=
NM_004463.2:c.261G>C NP_004454.2:p.Arg87=
NM_004463.3:c.261G>C MANE Select NP_004454.2:p.Arg87=