Canonical Allele Identifier: CA217138

Gene: GFAP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908128G>T , CM000679.2:g.44908128G>T	GRCh38
NC_000017.10:g.42985496G>T , CM000679.1:g.42985496G>T	GRCh37
NC_000017.9:g.40341022G>T	NCBI36
NG_008401.1:g.12419C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1313C>A	ENSP00000253408.5:p.Ser438Tyr
ENST00000253408.10:c.1313C>A	ENSP00000253408.5:p.Ser438Tyr
ENST00000441312.2:n.46C>A
ENST00000585543.6:n.346C>A
ENST00000586125.2:c.128C>A	ENSP00000467397.2:p.Ser43Tyr
ENST00000588735.3:c.1193C>A MANE Select	ENSP00000466598.2:p.Ser398Tyr
ENST00000589701.2:n.2100C>A
ENST00000591880.2:c.292C>A
ENST00000592065.2:n.561C>A
ENST00000638304.1:c.112C>A
ENST00000638400.1:c.28C>A
ENST00000638488.1:n.657C>A
ENST00000638618.1:c.848C>A	ENSP00000492832.1:p.Ser283Tyr
ENST00000638921.1:n.120C>A
ENST00000639042.1:c.165C>A
ENST00000639277.1:c.1193C>A	ENSP00000492432.1:p.Ser398Tyr
ENST00000639369.1:c.43C>A
ENST00000640859.1:c.7C>A
ENST00000253408.9:c.1193C>A	ENSP00000253408.4:p.Ser398Tyr
ENST00000585543.5:n.346C>A
ENST00000586125.1:c.164C>A	ENSP00000467397.1:p.Ser55Tyr
ENST00000588735.1:c.83-12C>A	ENSP00000466598.1:n.83-12C>A
ENST00000589701.1:n.95C>A
ENST00000591880.1:c.59C>A	ENSP00000467530.1:p.Ser20Tyr
ENST00000592706.5:n.65C>A
NM_002055.4:c.1193C>A	NP_002046.1:p.Ser398Tyr
NM_001363846.1:c.1313C>A	NP_001350775.1:p.Ser438Tyr
XM_024450690.1:c.1517C>A	XP_024306458.1:p.Ser506Tyr
XM_024450692.1:c.1397C>A	XP_024306460.1:p.Ser466Tyr
NM_002055.5:c.1193C>A MANE Select	NP_002046.1:p.Ser398Tyr
NM_001363846.2:c.1313C>A	NP_001350775.1:p.Ser438Tyr