Canonical Allele Identifier: CA413254462
Gene: FGD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.54521594A>T (hg19) chrX:g.54495161A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495161A>T , CM000685.2:g.54495161A>T GRCh38
NC_000023.10:g.54521594A>T , CM000685.1:g.54521594A>T GRCh37
NC_000023.9:g.54538319A>T NCBI36
NG_008054.1:g.6006T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.272T>A MANE Select ENSP00000364277.3:p.Phe91Tyr
ENST00000375135.3:c.272T>A ENSP00000364277.3:p.Phe91Tyr
NM_004463.2:c.272T>A NP_004454.2:p.Phe91Tyr
NM_004463.3:c.272T>A MANE Select NP_004454.2:p.Phe91Tyr
Search 100 bp 5'
Search 100 bp 3'