Canonical Allele Identifier: CA2430182803

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54446178C= , CM000685.2:g.54446178C= GRCh38
NC_000023.10:g.54472611C= , CM000685.1:g.54472611C= GRCh37
NC_000023.9:g.54489336C= NCBI36
NG_008054.1:g.54989G=
NG_051993.1:g.10804C=

Transcript Alleles

HGVS Amino-acid change
ENST00000375135.4:c.2817G= (FGD1) MANE Select ENSP00000364277.3:p.Glu939=
ENST00000375151.5:c.*1628C= (TSR2) MANE Select ENSP00000364293.4:n.*1628C=
ENST00000375135.3:c.2817G= (FGD1) ENSP00000364277.3:p.Glu939=
NM_004463.2:c.2817G= (FGD1) NP_004454.2:p.Glu939=
NM_001346789.1:c.*1628C= (TSR2) NP_001333718.1:n.*1628C=
NM_001346790.1:c.*1628C= (TSR2) NP_001333719.1:n.*1628C=
NM_001346791.1:c.*1628C= (TSR2) NP_001333720.1:n.*1628C=
NM_001346792.1:c.*1628C= (TSR2) NP_001333721.1:n.*1628C=
NM_058163.2:c.*1628C= (TSR2) NP_477511.1:n.*1628C=
NM_004463.3:c.2817G= (FGD1) MANE Select NP_004454.2:p.Glu939=
NM_058163.3:c.*1628C= (TSR2) MANE Select NP_477511.1:n.*1628C=
NM_001346789.2:c.*1628C= (TSR2) NP_001333718.1:n.*1628C=
NM_001346790.2:c.*1628C= (TSR2) NP_001333719.1:n.*1628C=
NM_001346791.2:c.*1628C= (TSR2) NP_001333720.1:n.*1628C=
NM_001346792.2:c.*1628C= (TSR2) NP_001333721.1:n.*1628C=