Canonical Allele Identifier: CA8608869

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913276C>T , CM000679.2:g.44913276C>T	GRCh38
NC_000017.10:g.42990644C>T , CM000679.1:g.42990644C>T	GRCh37
NC_000017.9:g.40346170C>T	NCBI36
NG_008401.1:g.7271G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002055.5:c.773G>A MANE Select	NP_002046.1:p.Arg258His
ENST00000588735.3:c.773G>A MANE Select	ENSP00000466598.2:p.Arg258His
NM_001131019.2:c.773G>A	NP_001124491.1:p.Arg258His
NM_001131019.3:c.773G>A	NP_001124491.1:p.Arg258His
NM_001242376.1:c.773G>A	NP_001229305.1:p.Arg258His
NM_001242376.2:c.773G>A	NP_001229305.1:p.Arg258His
NM_001242376.3:c.773G>A	NP_001229305.1:p.Arg258His
NM_001363846.1:c.773G>A	NP_001350775.1:p.Arg258His
NM_001363846.2:c.773G>A	NP_001350775.1:p.Arg258His
NM_002055.4:c.773G>A	NP_002046.1:p.Arg258His
ENST00000253408.10:c.773G>A	ENSP00000253408.5:p.Arg258His
ENST00000253408.11:c.773G>A	ENSP00000253408.5:p.Arg258His
ENST00000253408.9:c.773G>A	ENSP00000253408.4:p.Arg258His
ENST00000376990.8:c.*172G>A	ENSP00000366189.4:n.*172G>A
ENST00000435360.6:c.773G>A	ENSP00000403962.1:p.Arg258His
ENST00000435360.7:c.773G>A	ENSP00000403962.1:p.Arg258His
ENST00000435360.8:c.773G>A	ENSP00000403962.1:p.Arg258His
ENST00000586127.6:n.1302G>A
ENST00000586793.5:c.773G>A	ENSP00000468500.1:p.Arg258His
ENST00000586793.6:c.773G>A	ENSP00000468500.2:p.Arg258His
ENST00000587997.5:c.249G>A
ENST00000587997.6:n.249G>A
ENST00000588316.1:c.677G>A	ENSP00000465629.1:p.Arg226His
ENST00000588735.1:c.82+2129G>A	ENSP00000466598.1:n.82+2129G>A
ENST00000588957.5:c.41G>A	ENSP00000465565.1:p.Arg14His
ENST00000590922.1:n.423G>A
ENST00000591327.2:n.1927G>A
ENST00000592320.5:c.618+452G>A	ENSP00000465320.1:n.618+452G>A
ENST00000592320.6:c.618+452G>A	ENSP00000465320.1:n.618+452G>A
ENST00000638281.1:c.773G>A	ENSP00000491088.1:p.Arg258His
ENST00000638618.1:c.428G>A	ENSP00000492832.1:p.Arg143His
ENST00000639277.1:c.773G>A	ENSP00000492432.1:p.Arg258His
ENST00000640552.1:n.787G>A
XM_024450690.1:c.977G>A	XP_024306458.1:p.Arg326His
XM_024450691.1:c.977G>A	XP_024306459.1:p.Arg326His
XM_024450692.1:c.977G>A	XP_024306460.1:p.Arg326His
XM_024450693.1:c.977G>A	XP_024306461.1:p.Arg326His