Canonical Allele Identifier: CA356591

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.[44913382C>G;44915251C>T] , CM000679.2:g.[44913382C>G;44915251C>T]	GRCh38
NC_000017.10:g.[42990750C>G;42992619C>T] , CM000679.1:g.[42990750C>G;42992619C>T]	GRCh37
NC_000017.9:g.[40346276C>G;40348145C>T]	NCBI36
NG_008401.1:g.[5296G>A;7165G>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.[236G>A;667G>C]	ENSP00000253408.5:p.[Arg79His;Glu223Gln]
ENST00000435360.8:c.[236G>A;667G>C]	ENSP00000403962.1:p.[Arg79His;Glu223Gln]
ENST00000253408.10:c.[236G>A;667G>C]	ENSP00000253408.5:p.[Arg79His;Glu223Gln]
ENST00000435360.7:c.[236G>A;667G>C]	ENSP00000403962.1:p.[Arg79His;Glu223Gln]
ENST00000586793.6:c.[236G>A;667G>C]	ENSP00000468500.2:p.[Arg79His;Glu223Gln]
ENST00000588735.3:c.[236G>A;667G>C] MANE Select	ENSP00000466598.2:p.[Arg79His;Glu223Gln]
ENST00000591327.2:n.[249G>A;1821G>C]
ENST00000592320.6:c.[236G>A;618+346G>C]	ENSP00000465320.1:p.Arg79His
ENST00000638281.1:c.[236G>A;667G>C]	ENSP00000491088.1:p.[Arg79His;Glu223Gln]
ENST00000639277.1:c.[236G>A;667G>C]	ENSP00000492432.1:p.[Arg79His;Glu223Gln]
ENST00000640552.1:n.[250G>A;681G>C]
ENST00000253408.9:c.[236G>A;667G>C]	ENSP00000253408.4:p.[Arg79His;Glu223Gln]
ENST00000376990.8:c.[236G>A;*66G>C]	ENSP00000366189.4:[p.Arg79His;n.*66G>C]
ENST00000435360.6:c.[236G>A;667G>C]	ENSP00000403962.1:p.[Arg79His;Glu223Gln]
ENST00000585728.5:c.[181+55G>A;*311G>C]	ENSP00000465208.1:n.[181+55G>A;*311G>C]
ENST00000586793.5:c.[236G>A;667G>C]	ENSP00000468500.1:p.[Arg79His;Glu223Gln]
ENST00000588316.1:c.[236G>A;571G>C]	ENSP00000465629.1:p.[Arg79His;Glu191Gln]
ENST00000588735.1:c.[82+154G>A;82+2023G>C]	ENSP00000466598.1:n.[82+154G>A;82+2023G>C]
ENST00000588957.5:c.[-272+566G>A;-66G>C]	ENSP00000465565.1:n.[-272+566G>A;-66G>C]
ENST00000592320.5:c.[236G>A;618+346G>C]	ENSP00000465320.1:p.Arg79His
NM_001131019.2:c.[236G>A;667G>C]	NP_001124491.1:p.[Arg79His;Glu223Gln]
NM_001242376.1:c.[236G>A;667G>C]	NP_001229305.1:p.[Arg79His;Glu223Gln]
NM_002055.4:c.[236G>A;667G>C]	NP_002046.1:p.[Arg79His;Glu223Gln]
NM_001363846.1:c.[236G>A;667G>C]	NP_001350775.1:p.[Arg79His;Glu223Gln]
XM_024450690.1:c.[236G>A;871G>C]	XP_024306458.1:p.[Arg79His;Glu291Gln]
XM_024450691.1:c.[236G>A;871G>C]	XP_024306459.1:p.[Arg79His;Glu291Gln]
XM_024450692.1:c.[236G>A;871G>C]	XP_024306460.1:p.[Arg79His;Glu291Gln]
XM_024450693.1:c.[236G>A;871G>C]	XP_024306461.1:p.[Arg79His;Glu291Gln]
NM_002055.5:c.[236G>A;667G>C] MANE Select	NP_002046.1:p.[Arg79His;Glu223Gln]
NM_001131019.3:c.[236G>A;667G>C]	NP_001124491.1:p.[Arg79His;Glu223Gln]
NM_001242376.2:c.[236G>A;667G>C]	NP_001229305.1:p.[Arg79His;Glu223Gln]
NM_001242376.3:c.[236G>A;667G>C]	NP_001229305.1:p.[Arg79His;Glu223Gln]
NM_001363846.2:c.[236G>A;667G>C]	NP_001350775.1:p.[Arg79His;Glu223Gln]