Canonical Allele Identifier: CA2693846352
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495121-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495121C>T , CM000685.2:g.54495121C>T GRCh38
NC_000023.10:g.54521554C>T , CM000685.1:g.54521554C>T GRCh37
NC_000023.9:g.54538279C>T NCBI36
NG_008054.1:g.6046G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.307+5G>A MANE Select ENSP00000364277.3:n.307+5G>A
ENST00000375135.3:c.307+5G>A ENSP00000364277.3:n.307+5G>A
NM_004463.2:c.307+5G>A NP_004454.2:n.307+5G>A
NM_004463.3:c.307+5G>A MANE Select NP_004454.2:n.307+5G>A
Search 100 bp 5'
Search 100 bp 3'