Canonical Allele Identifier: CA148158
Community Standard Title: NM_004463.3(FGD1):c.*36C>T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54446073G>A , CM000685.2:g.54446073G>A GRCh38
NC_000023.10:g.54472506G>A , CM000685.1:g.54472506G>A GRCh37
NC_000023.9:g.54489231G>A NCBI36
NG_008054.1:g.55094C>T
NG_051993.1:g.10699G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004463.3:c.*36C>T (FGD1) MANE Select NP_004454.2:n.*36C>T
NM_058163.3:c.*1523G>A (TSR2) MANE Select NP_477511.1:n.*1523G>A
ENST00000375135.4:c.*36C>T (FGD1) MANE Select ENSP00000364277.3:n.*36C>T
ENST00000375151.5:c.*1523G>A (TSR2) MANE Select ENSP00000364293.4:n.*1523G>A
NM_001346789.1:c.*1523G>A (TSR2) NP_001333718.1:n.*1523G>A
NM_001346789.2:c.*1523G>A (TSR2) NP_001333718.1:n.*1523G>A
NM_001346790.1:c.*1523G>A (TSR2) NP_001333719.1:n.*1523G>A
NM_001346790.2:c.*1523G>A (TSR2) NP_001333719.1:n.*1523G>A
NM_001346791.1:c.*1523G>A (TSR2) NP_001333720.1:n.*1523G>A
NM_001346791.2:c.*1523G>A (TSR2) NP_001333720.1:n.*1523G>A
NM_001346792.1:c.*1523G>A (TSR2) NP_001333721.1:n.*1523G>A
NM_001346792.2:c.*1523G>A (TSR2) NP_001333721.1:n.*1523G>A
NM_004463.2:c.*36C>T (FGD1) NP_004454.2:n.*36C>T
NM_058163.2:c.*1523G>A (TSR2) NP_477511.1:n.*1523G>A
ENST00000375135.3:c.*36C>T (FGD1) ENSP00000364277.3:n.*36C>T