Canonical Allele Identifier: CA399845524

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42990656T>G (hg19) ; chr17:g.44913288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913288T>G , CM000679.2:g.44913288T>G	GRCh38
NC_000017.10:g.42990656T>G , CM000679.1:g.42990656T>G	GRCh37
NC_000017.9:g.40346182T>G	NCBI36
NG_008401.1:g.7259A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.761A>C	ENSP00000253408.5:p.Glu254Ala
ENST00000435360.8:c.761A>C	ENSP00000403962.1:p.Glu254Ala
ENST00000253408.10:c.761A>C	ENSP00000253408.5:p.Glu254Ala
ENST00000435360.7:c.761A>C	ENSP00000403962.1:p.Glu254Ala
ENST00000586127.6:n.1290A>C
ENST00000586793.6:c.761A>C	ENSP00000468500.2:p.Glu254Ala
ENST00000587997.6:n.237A>C
ENST00000588735.3:c.761A>C MANE Select	ENSP00000466598.2:p.Glu254Ala
ENST00000591327.2:n.1915A>C
ENST00000592320.6:c.618+440A>C	ENSP00000465320.1:n.618+440A>C
ENST00000638281.1:c.761A>C	ENSP00000491088.1:p.Glu254Ala
ENST00000638618.1:c.416A>C	ENSP00000492832.1:p.Glu139Ala
ENST00000639277.1:c.761A>C	ENSP00000492432.1:p.Glu254Ala
ENST00000640552.1:n.775A>C
ENST00000253408.9:c.761A>C	ENSP00000253408.4:p.Glu254Ala
ENST00000376990.8:c.*160A>C	ENSP00000366189.4:n.*160A>C
ENST00000435360.6:c.761A>C	ENSP00000403962.1:p.Glu254Ala
ENST00000586793.5:c.761A>C	ENSP00000468500.1:p.Glu254Ala
ENST00000587997.5:c.237A>C
ENST00000588316.1:c.665A>C	ENSP00000465629.1:p.Glu222Ala
ENST00000588735.1:c.82+2117A>C	ENSP00000466598.1:n.82+2117A>C
ENST00000588957.5:c.29A>C	ENSP00000465565.1:p.Glu10Ala
ENST00000590922.1:n.411A>C
ENST00000592320.5:c.618+440A>C	ENSP00000465320.1:n.618+440A>C
NM_001131019.2:c.761A>C	NP_001124491.1:p.Glu254Ala
NM_001242376.1:c.761A>C	NP_001229305.1:p.Glu254Ala
NM_002055.4:c.761A>C	NP_002046.1:p.Glu254Ala
NM_001363846.1:c.761A>C	NP_001350775.1:p.Glu254Ala
XM_024450690.1:c.965A>C	XP_024306458.1:p.Glu322Ala
XM_024450691.1:c.965A>C	XP_024306459.1:p.Glu322Ala
XM_024450692.1:c.965A>C	XP_024306460.1:p.Glu322Ala
XM_024450693.1:c.965A>C	XP_024306461.1:p.Glu322Ala
NM_002055.5:c.761A>C MANE Select	NP_002046.1:p.Glu254Ala
NM_001131019.3:c.761A>C	NP_001124491.1:p.Glu254Ala
NM_001242376.2:c.761A>C	NP_001229305.1:p.Glu254Ala
NM_001242376.3:c.761A>C	NP_001229305.1:p.Glu254Ala
NM_001363846.2:c.761A>C	NP_001350775.1:p.Glu254Ala