Canonical Allele Identifier: CA516574740
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495268-T-C
MyVariant Identifiers: chrX:g.54521701T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495268T>C , CM000685.2:g.54495268T>C GRCh38
NC_000023.10:g.54521701T>C , CM000685.1:g.54521701T>C GRCh37
NC_000023.9:g.54538426T>C NCBI36
NG_008054.1:g.5899A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375135.4:c.165A>G MANE Select ENSP00000364277.3:p.Pro55=
ENST00000375135.3:c.165A>G ENSP00000364277.3:p.Pro55=
NM_004463.2:c.165A>G NP_004454.2:p.Pro55=
NM_004463.3:c.165A>G MANE Select NP_004454.2:p.Pro55=
Search 100 bp 5'
Search 100 bp 3'