Canonical Allele Identifier: CA10425115
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs754631608
ExAC: X:54492333 C / A
gnomAD v2: X-54492333-C-A
gnomAD v4: X-54465900-C-A
MyVariant Identifiers: chrX:g.54492333C>A (hg19) chrX:g.54465900C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465900C>A , CM000685.2:g.54465900C>A GRCh38
NC_000023.10:g.54492333C>A , CM000685.1:g.54492333C>A GRCh37
NC_000023.9:g.54509058C>A NCBI36
NG_008054.1:g.35267G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1341-48G>T MANE Select ENSP00000364277.3:n.1341-48G>T
ENST00000375135.3:c.1341-48G>T ENSP00000364277.3:n.1341-48G>T
NM_004463.2:c.1341-48G>T NP_004454.2:n.1341-48G>T
NM_004463.3:c.1341-48G>T MANE Select NP_004454.2:n.1341-48G>T
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