Canonical Allele Identifier: CA399844083
Gene: GFAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911360C>G , CM000679.2:g.44911360C>G GRCh38
NC_000017.10:g.42988728C>G , CM000679.1:g.42988728C>G GRCh37
NC_000017.9:g.40344254C>G NCBI36
NG_008401.1:g.9187G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.1003G>C ENSP00000253408.5:p.Gly335Arg
ENST00000435360.8:c.1003G>C ENSP00000403962.1:p.Gly335Arg
ENST00000253408.10:c.1003G>C ENSP00000253408.5:p.Gly335Arg
ENST00000435360.7:c.1003G>C ENSP00000403962.1:p.Gly335Arg
ENST00000585543.6:n.156G>C
ENST00000586127.6:n.1532G>C
ENST00000586793.6:c.907-39G>C ENSP00000468500.2:n.907-39G>C
ENST00000587997.6:n.479G>C
ENST00000588735.3:c.1003G>C MANE Select ENSP00000466598.2:p.Gly335Arg
ENST00000591327.2:n.2157G>C
ENST00000592320.6:c.619-39G>C ENSP00000465320.1:n.619-39G>C
ENST00000638281.1:c.1003G>C ENSP00000491088.1:p.Gly335Arg
ENST00000638618.1:c.658G>C ENSP00000492832.1:p.Gly220Arg
ENST00000639277.1:c.1003G>C ENSP00000492432.1:p.Gly335Arg
ENST00000640552.1:n.1017G>C
ENST00000253408.9:c.1003G>C ENSP00000253408.4:p.Gly335Arg
ENST00000376990.8:c.*402G>C ENSP00000366189.4:n.*402G>C
ENST00000435360.6:c.1003G>C ENSP00000403962.1:p.Gly335Arg
ENST00000585543.5:n.156G>C
ENST00000586793.5:c.1003G>C ENSP00000468500.1:p.Gly335Arg
ENST00000587997.5:c.479G>C
ENST00000588640.5:n.383G>C
ENST00000588735.1:c.83-3244G>C ENSP00000466598.1:n.83-3244G>C
ENST00000592320.5:c.619-39G>C ENSP00000465320.1:n.619-39G>C
NM_001131019.2:c.1003G>C NP_001124491.1:p.Gly335Arg
NM_001242376.1:c.1003G>C NP_001229305.1:p.Gly335Arg
NM_002055.4:c.1003G>C NP_002046.1:p.Gly335Arg
NM_001363846.1:c.1003G>C NP_001350775.1:p.Gly335Arg
XM_024450690.1:c.1207G>C XP_024306458.1:p.Gly403Arg
XM_024450691.1:c.1207G>C XP_024306459.1:p.Gly403Arg
XM_024450692.1:c.1207G>C XP_024306460.1:p.Gly403Arg
XM_024450693.1:c.1207G>C XP_024306461.1:p.Gly403Arg
NM_002055.5:c.1003G>C MANE Select NP_002046.1:p.Gly335Arg
NM_001131019.3:c.1003G>C NP_001124491.1:p.Gly335Arg
NM_001242376.2:c.1003G>C NP_001229305.1:p.Gly335Arg
NM_001242376.3:c.1003G>C NP_001229305.1:p.Gly335Arg
NM_001363846.2:c.1003G>C NP_001350775.1:p.Gly335Arg