Canonical Allele Identifier: CA399839030

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908114G>A , CM000679.2:g.44908114G>A	GRCh38
NC_000017.10:g.42985482G>A , CM000679.1:g.42985482G>A	GRCh37
NC_000017.9:g.40341008G>A	NCBI36
NG_008401.1:g.12433C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002055.5:c.1207C>T MANE Select	NP_002046.1:p.His403Tyr
ENST00000588735.3:c.1207C>T MANE Select	ENSP00000466598.2:p.His403Tyr
NM_001363846.1:c.1327C>T	NP_001350775.1:p.His443Tyr
NM_001363846.2:c.1327C>T	NP_001350775.1:p.His443Tyr
NM_002055.4:c.1207C>T	NP_002046.1:p.His403Tyr
ENST00000253408.10:c.1327C>T	ENSP00000253408.5:p.His443Tyr
ENST00000253408.11:c.1327C>T	ENSP00000253408.5:p.His443Tyr
ENST00000253408.9:c.1207C>T	ENSP00000253408.4:p.His403Tyr
ENST00000441312.2:n.60C>T
ENST00000585543.5:n.360C>T
ENST00000585543.6:n.360C>T
ENST00000586125.1:c.178C>T	ENSP00000467397.1:p.His60Tyr
ENST00000586125.2:c.142C>T	ENSP00000467397.2:p.His48Tyr
ENST00000588735.1:c.85C>T	ENSP00000466598.1:p.His29Tyr
ENST00000589701.1:n.109C>T
ENST00000589701.2:n.2114C>T
ENST00000591880.1:c.73C>T	ENSP00000467530.1:p.His25Tyr
ENST00000591880.2:c.306C>T
ENST00000592065.1:n.1C>T
ENST00000592065.2:n.575C>T
ENST00000592706.5:n.79C>T
ENST00000638304.1:c.126C>T
ENST00000638400.1:c.42C>T
ENST00000638488.1:n.671C>T
ENST00000638618.1:c.862C>T	ENSP00000492832.1:p.His288Tyr
ENST00000638921.1:n.134C>T
ENST00000639042.1:c.179C>T
ENST00000639277.1:c.1207C>T	ENSP00000492432.1:p.His403Tyr
ENST00000639369.1:c.57C>T
ENST00000640545.1:c.13C>T	ENSP00000491735.1:p.His5Tyr
ENST00000640859.1:c.21C>T
XM_024450690.1:c.1531C>T	XP_024306458.1:p.His511Tyr
XM_024450692.1:c.1411C>T	XP_024306460.1:p.His471Tyr