Canonical Allele Identifier: CA2693846278
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495065-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495065A>G , CM000685.2:g.54495065A>G GRCh38
NC_000023.10:g.54521498A>G , CM000685.1:g.54521498A>G GRCh37
NC_000023.9:g.54538223A>G NCBI36
NG_008054.1:g.6102T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.307+61T>C MANE Select ENSP00000364277.3:n.307+61T>C
ENST00000375135.3:c.307+61T>C ENSP00000364277.3:n.307+61T>C
NM_004463.2:c.307+61T>C NP_004454.2:n.307+61T>C
NM_004463.3:c.307+61T>C MANE Select NP_004454.2:n.307+61T>C
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