Canonical Allele Identifier: CA413245318
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54465845-A-G
MyVariant Identifiers: chrX:g.54492278A>G (hg19) chrX:g.54465845A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465845A>G , CM000685.2:g.54465845A>G GRCh38
NC_000023.10:g.54492278A>G , CM000685.1:g.54492278A>G GRCh37
NC_000023.9:g.54509003A>G NCBI36
NG_008054.1:g.35322T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1348T>C MANE Select ENSP00000364277.3:p.Tyr450His
ENST00000375135.3:c.1348T>C ENSP00000364277.3:p.Tyr450His
NM_004463.2:c.1348T>C NP_004454.2:p.Tyr450His
NM_004463.3:c.1348T>C MANE Select NP_004454.2:p.Tyr450His
Search 100 bp 5'
Search 100 bp 3'