Canonical Allele Identifier: CA2261611937
Community Standard Title: NM_002055.5(GFAP):c.827G= (p.Arg276=)
Gene: GFAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911751C= , CM000679.2:g.44911751C= GRCh38
NC_000017.10:g.42989119C= , CM000679.1:g.42989119C= GRCh37
NC_000017.9:g.40344645C= NCBI36
NG_008401.1:g.8796G=

Transcript Alleles

HGVS Amino-acid Change
NM_002055.5:c.827G= MANE Select NP_002046.1:p.Arg276=
ENST00000588735.3:c.827G= MANE Select ENSP00000466598.2:p.Arg276=
NM_001131019.2:c.827G= NP_001124491.1:p.Arg276=
NM_001131019.3:c.827G= NP_001124491.1:p.Arg276=
NM_001242376.1:c.827G= NP_001229305.1:p.Arg276=
NM_001242376.2:c.827G= NP_001229305.1:p.Arg276=
NM_001242376.3:c.827G= NP_001229305.1:p.Arg276=
NM_001363846.1:c.827G= NP_001350775.1:p.Arg276=
NM_001363846.2:c.827G= NP_001350775.1:p.Arg276=
NM_002055.4:c.827G= NP_002046.1:p.Arg276=
ENST00000253408.10:c.827G= ENSP00000253408.5:p.Arg276=
ENST00000253408.11:c.827G= ENSP00000253408.5:p.Arg276=
ENST00000253408.9:c.827G= ENSP00000253408.4:p.Arg276=
ENST00000376990.8:c.*226G= ENSP00000366189.4:n.*226G=
ENST00000435360.6:c.827G= ENSP00000403962.1:p.Arg276=
ENST00000435360.7:c.827G= ENSP00000403962.1:p.Arg276=
ENST00000435360.8:c.827G= ENSP00000403962.1:p.Arg276=
ENST00000586127.6:n.1356G=
ENST00000586793.5:c.827G= ENSP00000468500.1:p.Arg276=
ENST00000586793.6:c.827G= ENSP00000468500.2:p.Arg276=
ENST00000587997.5:c.303G=
ENST00000587997.6:n.303G=
ENST00000588316.1:c.731G= ENSP00000465629.1:p.Arg244=
ENST00000588640.5:n.207G=
ENST00000588735.1:c.83-3635G= ENSP00000466598.1:n.83-3635G=
ENST00000588957.5:c.95G= ENSP00000465565.1:p.Arg32=
ENST00000590922.1:n.477G=
ENST00000591327.2:n.1981G=
ENST00000591719.5:n.461G=
ENST00000592320.5:c.619-430G= ENSP00000465320.1:n.619-430G=
ENST00000592320.6:c.619-430G= ENSP00000465320.1:n.619-430G=
ENST00000638281.1:c.827G= ENSP00000491088.1:p.Arg276=
ENST00000638618.1:c.482G= ENSP00000492832.1:p.Arg161=
ENST00000639277.1:c.827G= ENSP00000492432.1:p.Arg276=
ENST00000640552.1:n.841G=
XM_024450690.1:c.1031G= XP_024306458.1:p.Arg344=
XM_024450691.1:c.1031G= XP_024306459.1:p.Arg344=
XM_024450692.1:c.1031G= XP_024306460.1:p.Arg344=
XM_024450693.1:c.1031G= XP_024306461.1:p.Arg344=