Canonical Allele Identifier: CA2820993217
Gene: FGD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495016G>A , CM000685.2:g.54495016G>A GRCh38
NC_000023.10:g.54521449G>A , CM000685.1:g.54521449G>A GRCh37
NC_000023.9:g.54538174G>A NCBI36
NG_008054.1:g.6151C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.307+110C>T MANE Select ENSP00000364277.3:n.307+110C>T
ENST00000375135.3:c.307+110C>T ENSP00000364277.3:n.307+110C>T
NM_004463.2:c.307+110C>T NP_004454.2:n.307+110C>T
NM_004463.3:c.307+110C>T MANE Select NP_004454.2:n.307+110C>T
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