Canonical Allele Identifier: CA413254750
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495257-T-C
MyVariant Identifiers: chrX:g.54521690T>C (hg19) chrX:g.54495257T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495257T>C , CM000685.2:g.54495257T>C GRCh38
NC_000023.10:g.54521690T>C , CM000685.1:g.54521690T>C GRCh37
NC_000023.9:g.54538415T>C NCBI36
NG_008054.1:g.5910A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.176A>G MANE Select ENSP00000364277.3:p.Gln59Arg
ENST00000375135.3:c.176A>G ENSP00000364277.3:p.Gln59Arg
NM_004463.2:c.176A>G NP_004454.2:p.Gln59Arg
NM_004463.3:c.176A>G MANE Select NP_004454.2:p.Gln59Arg
Search 100 bp 5'
Search 100 bp 3'