Canonical Allele Identifier: CA516574731
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs1374130707
gnomAD v2: X-54521692-G-A
MyVariant Identifiers: chrX:g.54521692G>A (hg19) chrX:g.54495259G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495259G>A , CM000685.2:g.54495259G>A GRCh38
NC_000023.10:g.54521692G>A , CM000685.1:g.54521692G>A GRCh37
NC_000023.9:g.54538417G>A NCBI36
NG_008054.1:g.5908C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.174C>T MANE Select ENSP00000364277.3:p.Pro58=
ENST00000375135.3:c.174C>T ENSP00000364277.3:p.Pro58=
NM_004463.2:c.174C>T NP_004454.2:p.Pro58=
NM_004463.3:c.174C>T MANE Select NP_004454.2:p.Pro58=
Search 100 bp 5'
Search 100 bp 3'