Canonical Allele Identifier: CA399838864

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985455T>A (hg19) ; chr17:g.44908087T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908087T>A , CM000679.2:g.44908087T>A	GRCh38
NC_000017.10:g.42985455T>A , CM000679.1:g.42985455T>A	GRCh37
NC_000017.9:g.40340981T>A	NCBI36
NG_008401.1:g.12460A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1354A>T	ENSP00000253408.5:p.Thr452Ser
ENST00000253408.10:c.1354A>T	ENSP00000253408.5:p.Thr452Ser
ENST00000441312.2:n.87A>T
ENST00000585543.6:n.387A>T
ENST00000586125.2:c.169A>T	ENSP00000467397.2:p.Thr57Ser
ENST00000588735.3:c.1234A>T MANE Select	ENSP00000466598.2:p.Thr412Ser
ENST00000589701.2:n.2141A>T
ENST00000591880.2:c.333A>T
ENST00000592065.2:n.602A>T
ENST00000638304.1:c.153A>T
ENST00000638400.1:c.69A>T
ENST00000638488.1:n.698A>T
ENST00000638618.1:c.889A>T	ENSP00000492832.1:p.Thr297Ser
ENST00000638921.1:n.161A>T
ENST00000639042.1:c.206A>T
ENST00000639277.1:c.1234A>T	ENSP00000492432.1:p.Thr412Ser
ENST00000639369.1:c.84A>T
ENST00000640545.1:c.40A>T	ENSP00000491735.1:p.Thr14Ser
ENST00000640859.1:c.48A>T
ENST00000253408.9:c.1234A>T	ENSP00000253408.4:p.Thr412Ser
ENST00000585543.5:n.387A>T
ENST00000588735.1:c.112A>T	ENSP00000466598.1:p.Thr38Ser
ENST00000589701.1:n.136A>T
ENST00000591880.1:c.100A>T	ENSP00000467530.1:p.Thr34Ser
ENST00000592065.1:n.28A>T
ENST00000592706.5:n.106A>T
NM_002055.4:c.1234A>T	NP_002046.1:p.Thr412Ser
NM_001363846.1:c.1354A>T	NP_001350775.1:p.Thr452Ser
XM_024450690.1:c.1558A>T	XP_024306458.1:p.Thr520Ser
XM_024450692.1:c.1438A>T	XP_024306460.1:p.Thr480Ser
NM_002055.5:c.1234A>T MANE Select	NP_002046.1:p.Thr412Ser
NM_001363846.2:c.1354A>T	NP_001350775.1:p.Thr452Ser