Canonical Allele Identifier: CA8608683

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44910148C>T , CM000679.2:g.44910148C>T	GRCh38
NC_000017.10:g.42987516C>T , CM000679.1:g.42987516C>T	GRCh37
NC_000017.9:g.40343042C>T	NCBI36
NG_008401.1:g.10399G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002055.5:c.1171+467G>A MANE Select	NP_002046.1:n.1171+467G>A
ENST00000588735.3:c.1171+467G>A MANE Select	ENSP00000466598.2:n.1171+467G>A
NM_001131019.2:c.1284G>A	NP_001124491.1:p.Pro428=
NM_001131019.3:c.1284G>A	NP_001124491.1:p.Pro428=
NM_001242376.1:c.*321G>A	NP_001229305.1:n.*321G>A
NM_001242376.2:c.*321G>A	NP_001229305.1:n.*321G>A
NM_001242376.3:c.*321G>A	NP_001229305.1:n.*321G>A
NM_001363846.1:c.1284G>A	NP_001350775.1:p.Pro428=
NM_001363846.2:c.1284G>A	NP_001350775.1:p.Pro428=
NM_002055.4:c.1171+467G>A	NP_002046.1:n.1171+467G>A
ENST00000253408.10:c.1284G>A	ENSP00000253408.5:p.Pro428=
ENST00000253408.11:c.1284G>A	ENSP00000253408.5:p.Pro428=
ENST00000253408.9:c.1171+467G>A	ENSP00000253408.4:n.1171+467G>A
ENST00000435360.6:c.1284G>A	ENSP00000403962.1:p.Pro428=
ENST00000435360.7:c.1284G>A	ENSP00000403962.1:p.Pro428=
ENST00000435360.8:c.1284G>A	ENSP00000403962.1:p.Pro428=
ENST00000585543.5:n.324+467G>A
ENST00000585543.6:n.324+467G>A
ENST00000586125.1:c.135G>A	ENSP00000467397.1:p.Pro45=
ENST00000586125.2:c.106+467G>A	ENSP00000467397.2:n.106+467G>A
ENST00000588640.5:n.551+467G>A
ENST00000588735.1:c.83-2032G>A	ENSP00000466598.1:n.83-2032G>A
ENST00000589701.2:n.80G>A
ENST00000591327.2:n.2792G>A
ENST00000591880.1:c.37+467G>A	ENSP00000467530.1:n.37+467G>A
ENST00000591880.2:c.214G>A
ENST00000638281.1:c.1638G>A	ENSP00000491088.1:n.1638G>A
ENST00000638304.1:c.90+467G>A
ENST00000638400.1:c.6+467G>A
ENST00000638488.1:n.579G>A
ENST00000638618.1:c.826+467G>A	ENSP00000492832.1:n.826+467G>A
ENST00000639042.1:c.143+78G>A
ENST00000639277.1:c.1171+467G>A	ENSP00000492432.1:n.1171+467G>A
ENST00000639369.1:c.21+467G>A
ENST00000639921.1:c.811G>A
ENST00000640552.1:n.1652G>A
XM_024450690.1:c.1488G>A	XP_024306458.1:p.Pro496=
XM_024450691.1:c.*321G>A	XP_024306459.1:n.*321G>A
XM_024450692.1:c.1375+467G>A	XP_024306460.1:n.1375+467G>A
XM_024450693.1:c.1488G>A	XP_024306461.1:p.Pro496=