Canonical Allele Identifier: CA641367046
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs1316401009
gnomAD v2: X-54521511-A-T
gnomAD v3: X-54495078-A-T
gnomAD v4: X-54495078-A-T
MyVariant Identifiers: chrX:g.54521511A>T (hg19) chrX:g.54495078A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495078A>T , CM000685.2:g.54495078A>T GRCh38
NC_000023.10:g.54521511A>T , CM000685.1:g.54521511A>T GRCh37
NC_000023.9:g.54538236A>T NCBI36
NG_008054.1:g.6089T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.307+48T>A MANE Select ENSP00000364277.3:n.307+48T>A
ENST00000375135.3:c.307+48T>A ENSP00000364277.3:n.307+48T>A
NM_004463.2:c.307+48T>A NP_004454.2:n.307+48T>A
NM_004463.3:c.307+48T>A MANE Select NP_004454.2:n.307+48T>A
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