Canonical Allele Identifier: CA217125
Community Standard Title: NM_002055.5(GFAP):c.1128-66C>G
Gene: GFAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44910724G>C , CM000679.2:g.44910724G>C GRCh38
NC_000017.10:g.42988092G>C , CM000679.1:g.42988092G>C GRCh37
NC_000017.9:g.40343618G>C NCBI36
NG_008401.1:g.9823C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002055.5:c.1128-66C>G MANE Select NP_002046.1:n.1128-66C>G
ENST00000588735.3:c.1128-66C>G MANE Select ENSP00000466598.2:n.1128-66C>G
NM_001131019.2:c.1128-66C>G NP_001124491.1:n.1128-66C>G
NM_001131019.3:c.1128-66C>G NP_001124491.1:n.1128-66C>G
NM_001242376.1:c.1128-66C>G NP_001229305.1:n.1128-66C>G
NM_001242376.2:c.1128-66C>G NP_001229305.1:n.1128-66C>G
NM_001242376.3:c.1128-66C>G NP_001229305.1:n.1128-66C>G
NM_001363846.1:c.1128-66C>G NP_001350775.1:n.1128-66C>G
NM_001363846.2:c.1128-66C>G NP_001350775.1:n.1128-66C>G
NM_002055.4:c.1128-66C>G NP_002046.1:n.1128-66C>G
ENST00000253408.10:c.1128-66C>G ENSP00000253408.5:n.1128-66C>G
ENST00000253408.11:c.1128-66C>G ENSP00000253408.5:n.1128-66C>G
ENST00000253408.9:c.1128-66C>G ENSP00000253408.4:n.1128-66C>G
ENST00000435360.6:c.1128-66C>G ENSP00000403962.1:n.1128-66C>G
ENST00000435360.7:c.1128-66C>G ENSP00000403962.1:n.1128-66C>G
ENST00000435360.8:c.1128-66C>G ENSP00000403962.1:n.1128-66C>G
ENST00000585543.5:n.281-66C>G
ENST00000585543.6:n.281-66C>G
ENST00000586125.2:c.63-66C>G ENSP00000467397.2:n.63-66C>G
ENST00000586127.6:n.1657-66C>G
ENST00000586793.5:c.1128-66C>G ENSP00000468500.1:n.1128-66C>G
ENST00000586793.6:c.993-66C>G ENSP00000468500.2:n.993-66C>G
ENST00000587997.6:n.604-66C>G
ENST00000588640.5:n.508-66C>G
ENST00000588735.1:c.83-2608C>G ENSP00000466598.1:n.83-2608C>G
ENST00000591327.2:n.2282-66C>G
ENST00000591880.2:c.58-66C>G
ENST00000592320.5:c.705-66C>G ENSP00000465320.1:n.705-66C>G
ENST00000592320.6:c.705-66C>G ENSP00000465320.1:n.705-66C>G
ENST00000638281.1:c.1128-66C>G ENSP00000491088.1:n.1128-66C>G
ENST00000638304.1:c.47-66C>G
ENST00000638488.1:n.69-66C>G
ENST00000638618.1:c.783-66C>G ENSP00000492832.1:n.783-66C>G
ENST00000639042.1:c.65-66C>G
ENST00000639277.1:c.1128-66C>G ENSP00000492432.1:n.1128-66C>G
ENST00000639921.1:c.235C>G
ENST00000640552.1:n.1142-66C>G
XM_024450690.1:c.1332-66C>G XP_024306458.1:n.1332-66C>G
XM_024450691.1:c.1332-66C>G XP_024306459.1:n.1332-66C>G
XM_024450692.1:c.1332-66C>G XP_024306460.1:n.1332-66C>G
XM_024450693.1:c.1332-66C>G XP_024306461.1:n.1332-66C>G