Canonical Allele Identifier: CA2261611326
Community Standard Title: NM_002055.5(GFAP):c.1148C= (p.Thr383=)
Gene: GFAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44910638G= , CM000679.2:g.44910638G= GRCh38
NC_000017.10:g.42988006G= , CM000679.1:g.42988006G= GRCh37
NC_000017.9:g.40343532G= NCBI36
NG_008401.1:g.9909C=

Transcript Alleles

HGVS Amino-acid Change
NM_002055.5:c.1148C= MANE Select NP_002046.1:p.Thr383=
ENST00000588735.3:c.1148C= MANE Select ENSP00000466598.2:p.Thr383=
NM_001131019.2:c.1148C= NP_001124491.1:p.Thr383=
NM_001131019.3:c.1148C= NP_001124491.1:p.Thr383=
NM_001242376.1:c.1148C= NP_001229305.1:p.Thr383=
NM_001242376.2:c.1148C= NP_001229305.1:p.Thr383=
NM_001242376.3:c.1148C= NP_001229305.1:p.Thr383=
NM_001363846.1:c.1148C= NP_001350775.1:p.Thr383=
NM_001363846.2:c.1148C= NP_001350775.1:p.Thr383=
NM_002055.4:c.1148C= NP_002046.1:p.Thr383=
ENST00000253408.10:c.1148C= ENSP00000253408.5:p.Thr383=
ENST00000253408.11:c.1148C= ENSP00000253408.5:p.Thr383=
ENST00000253408.9:c.1148C= ENSP00000253408.4:p.Thr383=
ENST00000435360.6:c.1148C= ENSP00000403962.1:p.Thr383=
ENST00000435360.7:c.1148C= ENSP00000403962.1:p.Thr383=
ENST00000435360.8:c.1148C= ENSP00000403962.1:p.Thr383=
ENST00000585543.5:n.301C=
ENST00000585543.6:n.301C=
ENST00000586125.2:c.83C= ENSP00000467397.2:p.Thr28=
ENST00000586127.6:n.1677C=
ENST00000586793.5:c.1148C= ENSP00000468500.1:p.Thr383=
ENST00000588640.5:n.528C=
ENST00000588735.1:c.83-2522C= ENSP00000466598.1:n.83-2522C=
ENST00000591327.2:n.2302C=
ENST00000591880.1:c.14C= ENSP00000467530.1:p.Thr5=
ENST00000591880.2:c.78C=
ENST00000592320.5:c.725C= ENSP00000465320.1:p.Thr242=
ENST00000592320.6:c.725C= ENSP00000465320.1:p.Thr242=
ENST00000638281.1:c.1148C= ENSP00000491088.1:p.Thr383=
ENST00000638304.1:c.67C=
ENST00000638488.1:n.89C=
ENST00000638618.1:c.803C= ENSP00000492832.1:p.Thr268=
ENST00000639042.1:c.85C=
ENST00000639277.1:c.1148C= ENSP00000492432.1:p.Thr383=
ENST00000639921.1:c.321C=
ENST00000640552.1:n.1162C=
XM_024450690.1:c.1352C= XP_024306458.1:p.Thr451=
XM_024450691.1:c.1352C= XP_024306459.1:p.Thr451=
XM_024450692.1:c.1352C= XP_024306460.1:p.Thr451=
XM_024450693.1:c.1352C= XP_024306461.1:p.Thr451=