Canonical Allele Identifier: CA10425107
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs764146815
ExAC: X:54492274 G / A
gnomAD v2: X-54492274-G-A
MyVariant Identifiers: chrX:g.54492274G>A (hg19) chrX:g.54465841G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465841G>A , CM000685.2:g.54465841G>A GRCh38
NC_000023.10:g.54492274G>A , CM000685.1:g.54492274G>A GRCh37
NC_000023.9:g.54508999G>A NCBI36
NG_008054.1:g.35326C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1352C>T MANE Select ENSP00000364277.3:p.Pro451Leu
ENST00000375135.3:c.1352C>T ENSP00000364277.3:p.Pro451Leu
NM_004463.2:c.1352C>T NP_004454.2:p.Pro451Leu
NM_004463.3:c.1352C>T MANE Select NP_004454.2:p.Pro451Leu
Search 100 bp 5'
Search 100 bp 3'