Canonical Allele Identifier: CA413245132
Gene: FGD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.54492252C>A (hg19) chrX:g.54465819C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465819C>A , CM000685.2:g.54465819C>A GRCh38
NC_000023.10:g.54492252C>A , CM000685.1:g.54492252C>A GRCh37
NC_000023.9:g.54508977C>A NCBI36
NG_008054.1:g.35348G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1374G>T MANE Select ENSP00000364277.3:p.Gln458His
ENST00000375135.3:c.1374G>T ENSP00000364277.3:p.Gln458His
NM_004463.2:c.1374G>T NP_004454.2:p.Gln458His
NM_004463.3:c.1374G>T MANE Select NP_004454.2:p.Gln458His
Search 100 bp 5'
Search 100 bp 3'