Canonical Allele Identifier: CA876352220
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs1221750182
gnomAD v4: X-54465939-C-A
MyVariant Identifiers: chrX:g.54492372C>A (hg19) chrX:g.54465939C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465939C>A , CM000685.2:g.54465939C>A GRCh38
NC_000023.10:g.54492372C>A , CM000685.1:g.54492372C>A GRCh37
NC_000023.9:g.54509097C>A NCBI36
NG_008054.1:g.35228G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1341-87G>T MANE Select ENSP00000364277.3:n.1341-87G>T
ENST00000375135.3:c.1341-87G>T ENSP00000364277.3:n.1341-87G>T
NM_004463.2:c.1341-87G>T NP_004454.2:n.1341-87G>T
NM_004463.3:c.1341-87G>T MANE Select NP_004454.2:n.1341-87G>T
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