Canonical Allele Identifier: CA291024834

Gene: GFAP

Linked Data

• dbSNP Id: rs931595766
• MyVariant Identifiers: chr17:g.42985486T>A (hg19) ; chr17:g.44908118T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908118T>A , CM000679.2:g.44908118T>A	GRCh38
NC_000017.10:g.42985486T>A , CM000679.1:g.42985486T>A	GRCh37
NC_000017.9:g.40341012T>A	NCBI36
NG_008401.1:g.12429A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1323A>T	ENSP00000253408.5:p.Glu441Asp
ENST00000253408.10:c.1323A>T	ENSP00000253408.5:p.Glu441Asp
ENST00000441312.2:n.56A>T
ENST00000585543.6:n.356A>T
ENST00000586125.2:c.138A>T	ENSP00000467397.2:p.Glu46Asp
ENST00000588735.3:c.1203A>T MANE Select	ENSP00000466598.2:p.Glu401Asp
ENST00000589701.2:n.2110A>T
ENST00000591880.2:c.302A>T
ENST00000592065.2:n.571A>T
ENST00000638304.1:c.122A>T
ENST00000638400.1:c.38A>T
ENST00000638488.1:n.667A>T
ENST00000638618.1:c.858A>T	ENSP00000492832.1:p.Glu286Asp
ENST00000638921.1:n.130A>T
ENST00000639042.1:c.175A>T
ENST00000639277.1:c.1203A>T	ENSP00000492432.1:p.Glu401Asp
ENST00000639369.1:c.53A>T
ENST00000640545.1:c.9A>T	ENSP00000491735.1:p.Glu3Asp
ENST00000640859.1:c.17A>T
ENST00000253408.9:c.1203A>T	ENSP00000253408.4:p.Glu401Asp
ENST00000585543.5:n.356A>T
ENST00000586125.1:c.174A>T	ENSP00000467397.1:p.Glu58Asp
ENST00000588735.1:c.83-2A>T	ENSP00000466598.1:n.83-2A>T
ENST00000589701.1:n.105A>T
ENST00000591880.1:c.69A>T	ENSP00000467530.1:p.Glu23Asp
ENST00000592706.5:n.75A>T
NM_002055.4:c.1203A>T	NP_002046.1:p.Glu401Asp
NM_001363846.1:c.1323A>T	NP_001350775.1:p.Glu441Asp
XM_024450690.1:c.1527A>T	XP_024306458.1:p.Glu509Asp
XM_024450692.1:c.1407A>T	XP_024306460.1:p.Glu469Asp
NM_002055.5:c.1203A>T MANE Select	NP_002046.1:p.Glu401Asp
NM_001363846.2:c.1323A>T	NP_001350775.1:p.Glu441Asp