Canonical Allele Identifier: CA2579621717
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54465925-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465925G>T , CM000685.2:g.54465925G>T GRCh38
NC_000023.10:g.54492358G>T , CM000685.1:g.54492358G>T GRCh37
NC_000023.9:g.54509083G>T NCBI36
NG_008054.1:g.35242C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1341-73C>A MANE Select ENSP00000364277.3:n.1341-73C>A
ENST00000375135.3:c.1341-73C>A ENSP00000364277.3:n.1341-73C>A
NM_004463.2:c.1341-73C>A NP_004454.2:n.1341-73C>A
NM_004463.3:c.1341-73C>A MANE Select NP_004454.2:n.1341-73C>A
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