Canonical Allele Identifier: CA413254439
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495152-T-G
MyVariant Identifiers: chrX:g.54521585T>G (hg19) chrX:g.54495152T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495152T>G , CM000685.2:g.54495152T>G GRCh38
NC_000023.10:g.54521585T>G , CM000685.1:g.54521585T>G GRCh37
NC_000023.9:g.54538310T>G NCBI36
NG_008054.1:g.6015A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.281A>C MANE Select ENSP00000364277.3:p.His94Pro
ENST00000375135.3:c.281A>C ENSP00000364277.3:p.His94Pro
NM_004463.2:c.281A>C NP_004454.2:p.His94Pro
NM_004463.3:c.281A>C MANE Select NP_004454.2:p.His94Pro
Search 100 bp 5'
Search 100 bp 3'