Canonical Allele Identifier: CA2261610257

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908141G= , CM000679.2:g.44908141G=	GRCh38
NC_000017.10:g.42985509G= , CM000679.1:g.42985509G=	GRCh37
NC_000017.9:g.40341035G=	NCBI36
NG_008401.1:g.12406C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1300C=	ENSP00000253408.5:p.Leu434=
ENST00000253408.10:c.1300C=	ENSP00000253408.5:p.Leu434=
ENST00000441312.2:n.33C=
ENST00000585543.6:n.333C=
ENST00000586125.2:c.115C=	ENSP00000467397.2:p.Leu39=
ENST00000588735.3:c.1180C= MANE Select	ENSP00000466598.2:p.Leu394=
ENST00000589701.2:n.2087C=
ENST00000591880.2:c.279C=
ENST00000592065.2:n.548C=
ENST00000638304.1:c.99C=
ENST00000638400.1:c.15C=
ENST00000638488.1:n.644C=
ENST00000638618.1:c.835C=	ENSP00000492832.1:p.Leu279=
ENST00000638921.1:n.107C=
ENST00000639042.1:c.152C=
ENST00000639277.1:c.1180C=	ENSP00000492432.1:p.Leu394=
ENST00000639369.1:c.30C=
ENST00000253408.9:c.1180C=	ENSP00000253408.4:p.Leu394=
ENST00000585543.5:n.333C=
ENST00000586125.1:c.151C=	ENSP00000467397.1:p.Leu51=
ENST00000588640.5:n.560C=
ENST00000588735.1:c.83-25C=	ENSP00000466598.1:n.83-25C=
ENST00000589701.1:n.82C=
ENST00000591880.1:c.46C=	ENSP00000467530.1:p.Leu16=
ENST00000592706.5:n.52C=
NM_002055.4:c.1180C=	NP_002046.1:p.Leu394=
NM_001363846.1:c.1300C=	NP_001350775.1:p.Leu434=
XM_024450690.1:c.1504C=	XP_024306458.1:p.Leu502=
XM_024450692.1:c.1384C=	XP_024306460.1:p.Leu462=
NM_002055.5:c.1180C= MANE Select	NP_002046.1:p.Leu394=
NM_001363846.2:c.1300C=	NP_001350775.1:p.Leu434=