Canonical Allele Identifier: CA2261611692
Gene: GFAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911369C= , CM000679.2:g.44911369C= GRCh38
NC_000017.10:g.42988737C= , CM000679.1:g.42988737C= GRCh37
NC_000017.9:g.40344263C= NCBI36
NG_008401.1:g.9178G=

Transcript Alleles

HGVS Amino-acid Change
NM_002055.5:c.994G= MANE Select NP_002046.1:p.Glu332=
ENST00000588735.3:c.994G= MANE Select ENSP00000466598.2:p.Glu332=
NM_001131019.2:c.994G= NP_001124491.1:p.Glu332=
NM_001131019.3:c.994G= NP_001124491.1:p.Glu332=
NM_001242376.1:c.994G= NP_001229305.1:p.Glu332=
NM_001242376.2:c.994G= NP_001229305.1:p.Glu332=
NM_001242376.3:c.994G= NP_001229305.1:p.Glu332=
NM_001363846.1:c.994G= NP_001350775.1:p.Glu332=
NM_001363846.2:c.994G= NP_001350775.1:p.Glu332=
NM_002055.4:c.994G= NP_002046.1:p.Glu332=
ENST00000253408.10:c.994G= ENSP00000253408.5:p.Glu332=
ENST00000253408.11:c.994G= ENSP00000253408.5:p.Glu332=
ENST00000253408.9:c.994G= ENSP00000253408.4:p.Glu332=
ENST00000376990.8:c.*393G= ENSP00000366189.4:n.*393G=
ENST00000435360.6:c.994G= ENSP00000403962.1:p.Glu332=
ENST00000435360.7:c.994G= ENSP00000403962.1:p.Glu332=
ENST00000435360.8:c.994G= ENSP00000403962.1:p.Glu332=
ENST00000585543.5:n.147G=
ENST00000585543.6:n.147G=
ENST00000586127.6:n.1523G=
ENST00000586793.5:c.994G= ENSP00000468500.1:p.Glu332=
ENST00000586793.6:c.907-48G= ENSP00000468500.2:n.907-48G=
ENST00000587997.5:c.470G=
ENST00000587997.6:n.470G=
ENST00000588640.5:n.374G=
ENST00000588735.1:c.83-3253G= ENSP00000466598.1:n.83-3253G=
ENST00000591327.2:n.2148G=
ENST00000592320.5:c.619-48G= ENSP00000465320.1:n.619-48G=
ENST00000592320.6:c.619-48G= ENSP00000465320.1:n.619-48G=
ENST00000638281.1:c.994G= ENSP00000491088.1:p.Glu332=
ENST00000638618.1:c.649G= ENSP00000492832.1:p.Glu217=
ENST00000639277.1:c.994G= ENSP00000492432.1:p.Glu332=
ENST00000640552.1:n.1008G=
XM_024450690.1:c.1198G= XP_024306458.1:p.Glu400=
XM_024450691.1:c.1198G= XP_024306459.1:p.Glu400=
XM_024450692.1:c.1198G= XP_024306460.1:p.Glu400=
XM_024450693.1:c.1198G= XP_024306461.1:p.Glu400=