Canonical Allele Identifier: CA2430182809

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54446185A= , CM000685.2:g.54446185A= GRCh38
NC_000023.10:g.54472618A= , CM000685.1:g.54472618A= GRCh37
NC_000023.9:g.54489343A= NCBI36
NG_008054.1:g.54982T=
NG_051993.1:g.10811A=

Transcript Alleles

HGVS Amino-acid change
ENST00000375135.4:c.2810T= (FGD1) MANE Select ENSP00000364277.3:p.Met937=
ENST00000375151.5:c.*1635A= (TSR2) MANE Select ENSP00000364293.4:n.*1635A=
ENST00000375135.3:c.2810T= (FGD1) ENSP00000364277.3:p.Met937=
NM_004463.2:c.2810T= (FGD1) NP_004454.2:p.Met937=
NM_001346789.1:c.*1635A= (TSR2) NP_001333718.1:n.*1635A=
NM_001346790.1:c.*1635A= (TSR2) NP_001333719.1:n.*1635A=
NM_001346791.1:c.*1635A= (TSR2) NP_001333720.1:n.*1635A=
NM_001346792.1:c.*1635A= (TSR2) NP_001333721.1:n.*1635A=
NM_058163.2:c.*1635A= (TSR2) NP_477511.1:n.*1635A=
NM_004463.3:c.2810T= (FGD1) MANE Select NP_004454.2:p.Met937=
NM_058163.3:c.*1635A= (TSR2) MANE Select NP_477511.1:n.*1635A=
NM_001346789.2:c.*1635A= (TSR2) NP_001333718.1:n.*1635A=
NM_001346790.2:c.*1635A= (TSR2) NP_001333719.1:n.*1635A=
NM_001346791.2:c.*1635A= (TSR2) NP_001333720.1:n.*1635A=
NM_001346792.2:c.*1635A= (TSR2) NP_001333721.1:n.*1635A=