Canonical Allele Identifier: CA516689374
Gene: FGD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.54492147G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465714G>C , CM000685.2:g.54465714G>C GRCh38
NC_000023.10:g.54492147G>C , CM000685.1:g.54492147G>C GRCh37
NC_000023.9:g.54508872G>C NCBI36
NG_008054.1:g.35453C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1479C>G MANE Select ENSP00000364277.3:p.Val493=
ENST00000375135.3:c.1479C>G ENSP00000364277.3:p.Val493=
NM_004463.2:c.1479C>G NP_004454.2:p.Val493=
NM_004463.3:c.1479C>G MANE Select NP_004454.2:p.Val493=
Search 100 bp 5'
Search 100 bp 3'