Canonical Allele Identifier: CA399838953

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985470T>A (hg19) ; chr17:g.44908102T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908102T>A , CM000679.2:g.44908102T>A	GRCh38
NC_000017.10:g.42985470T>A , CM000679.1:g.42985470T>A	GRCh37
NC_000017.9:g.40340996T>A	NCBI36
NG_008401.1:g.12445A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1339A>T	ENSP00000253408.5:p.Asn447Tyr
ENST00000253408.10:c.1339A>T	ENSP00000253408.5:p.Asn447Tyr
ENST00000441312.2:n.72A>T
ENST00000585543.6:n.372A>T
ENST00000586125.2:c.154A>T	ENSP00000467397.2:p.Asn52Tyr
ENST00000588735.3:c.1219A>T MANE Select	ENSP00000466598.2:p.Asn407Tyr
ENST00000589701.2:n.2126A>T
ENST00000591880.2:c.318A>T
ENST00000592065.2:n.587A>T
ENST00000638304.1:c.138A>T
ENST00000638400.1:c.54A>T
ENST00000638488.1:n.683A>T
ENST00000638618.1:c.874A>T	ENSP00000492832.1:p.Asn292Tyr
ENST00000638921.1:n.146A>T
ENST00000639042.1:c.191A>T
ENST00000639277.1:c.1219A>T	ENSP00000492432.1:p.Asn407Tyr
ENST00000639369.1:c.69A>T
ENST00000640545.1:c.25A>T	ENSP00000491735.1:p.Asn9Tyr
ENST00000640859.1:c.33A>T
ENST00000253408.9:c.1219A>T	ENSP00000253408.4:p.Asn407Tyr
ENST00000585543.5:n.372A>T
ENST00000586125.1:c.190A>T	ENSP00000467397.1:p.Asn64Tyr
ENST00000588735.1:c.97A>T	ENSP00000466598.1:p.Asn33Tyr
ENST00000589701.1:n.121A>T
ENST00000591880.1:c.85A>T	ENSP00000467530.1:p.Asn29Tyr
ENST00000592065.1:n.13A>T
ENST00000592706.5:n.91A>T
NM_002055.4:c.1219A>T	NP_002046.1:p.Asn407Tyr
NM_001363846.1:c.1339A>T	NP_001350775.1:p.Asn447Tyr
XM_024450690.1:c.1543A>T	XP_024306458.1:p.Asn515Tyr
XM_024450692.1:c.1423A>T	XP_024306460.1:p.Asn475Tyr
NM_002055.5:c.1219A>T MANE Select	NP_002046.1:p.Asn407Tyr
NM_001363846.2:c.1339A>T	NP_001350775.1:p.Asn447Tyr