Canonical Allele Identifier: CA2261611936
Community Standard Title: NM_002055.5(GFAP):c.835A= (p.Lys279=)
Gene: GFAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911743T= , CM000679.2:g.44911743T= GRCh38
NC_000017.10:g.42989111T= , CM000679.1:g.42989111T= GRCh37
NC_000017.9:g.40344637T= NCBI36
NG_008401.1:g.8804A=

Transcript Alleles

HGVS Amino-acid Change
NM_002055.5:c.835A= MANE Select NP_002046.1:p.Lys279=
ENST00000588735.3:c.835A= MANE Select ENSP00000466598.2:p.Lys279=
NM_001131019.2:c.835A= NP_001124491.1:p.Lys279=
NM_001131019.3:c.835A= NP_001124491.1:p.Lys279=
NM_001242376.1:c.835A= NP_001229305.1:p.Lys279=
NM_001242376.2:c.835A= NP_001229305.1:p.Lys279=
NM_001242376.3:c.835A= NP_001229305.1:p.Lys279=
NM_001363846.1:c.835A= NP_001350775.1:p.Lys279=
NM_001363846.2:c.835A= NP_001350775.1:p.Lys279=
NM_002055.4:c.835A= NP_002046.1:p.Lys279=
ENST00000253408.10:c.835A= ENSP00000253408.5:p.Lys279=
ENST00000253408.11:c.835A= ENSP00000253408.5:p.Lys279=
ENST00000253408.9:c.835A= ENSP00000253408.4:p.Lys279=
ENST00000376990.8:c.*234A= ENSP00000366189.4:n.*234A=
ENST00000435360.6:c.835A= ENSP00000403962.1:p.Lys279=
ENST00000435360.7:c.835A= ENSP00000403962.1:p.Lys279=
ENST00000435360.8:c.835A= ENSP00000403962.1:p.Lys279=
ENST00000586127.6:n.1364A=
ENST00000586793.5:c.835A= ENSP00000468500.1:p.Lys279=
ENST00000586793.6:c.835A= ENSP00000468500.2:p.Lys279=
ENST00000587997.5:c.311A=
ENST00000587997.6:n.311A=
ENST00000588316.1:c.739A= ENSP00000465629.1:p.Lys247=
ENST00000588640.5:n.215A=
ENST00000588735.1:c.83-3627A= ENSP00000466598.1:n.83-3627A=
ENST00000588957.5:c.103A= ENSP00000465565.1:p.Lys35=
ENST00000590922.1:n.485A=
ENST00000591327.2:n.1989A=
ENST00000591719.5:n.469A=
ENST00000592320.5:c.619-422A= ENSP00000465320.1:n.619-422A=
ENST00000592320.6:c.619-422A= ENSP00000465320.1:n.619-422A=
ENST00000638281.1:c.835A= ENSP00000491088.1:p.Lys279=
ENST00000638618.1:c.490A= ENSP00000492832.1:p.Lys164=
ENST00000639277.1:c.835A= ENSP00000492432.1:p.Lys279=
ENST00000640552.1:n.849A=
XM_024450690.1:c.1039A= XP_024306458.1:p.Lys347=
XM_024450691.1:c.1039A= XP_024306459.1:p.Lys347=
XM_024450692.1:c.1039A= XP_024306460.1:p.Lys347=
XM_024450693.1:c.1039A= XP_024306461.1:p.Lys347=