Canonical Allele Identifier: CA413254708
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495245-G-T
MyVariant Identifiers: chrX:g.54521678G>T (hg19) chrX:g.54495245G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495245G>T , CM000685.2:g.54495245G>T GRCh38
NC_000023.10:g.54521678G>T , CM000685.1:g.54521678G>T GRCh37
NC_000023.9:g.54538403G>T NCBI36
NG_008054.1:g.5922C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.188C>A MANE Select ENSP00000364277.3:p.Pro63His
ENST00000375135.3:c.188C>A ENSP00000364277.3:p.Pro63His
NM_004463.2:c.188C>A NP_004454.2:p.Pro63His
NM_004463.3:c.188C>A MANE Select NP_004454.2:p.Pro63His
Search 100 bp 5'
Search 100 bp 3'