Canonical Allele Identifier: CA399839194

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985512T>G (hg19) ; chr17:g.44908144T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908144T>G , CM000679.2:g.44908144T>G	GRCh38
NC_000017.10:g.42985512T>G , CM000679.1:g.42985512T>G	GRCh37
NC_000017.9:g.40341038T>G	NCBI36
NG_008401.1:g.12403A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1297A>C	ENSP00000253408.5:p.Ser433Arg
ENST00000253408.10:c.1297A>C	ENSP00000253408.5:p.Ser433Arg
ENST00000441312.2:n.30A>C
ENST00000585543.6:n.330A>C
ENST00000586125.2:c.112A>C	ENSP00000467397.2:p.Ser38Arg
ENST00000588735.3:c.1177A>C MANE Select	ENSP00000466598.2:p.Ser393Arg
ENST00000589701.2:n.2084A>C
ENST00000591880.2:c.276A>C
ENST00000592065.2:n.545A>C
ENST00000638304.1:c.96A>C
ENST00000638400.1:c.12A>C
ENST00000638488.1:n.641A>C
ENST00000638618.1:c.832A>C	ENSP00000492832.1:p.Ser278Arg
ENST00000638921.1:n.104A>C
ENST00000639042.1:c.149A>C
ENST00000639277.1:c.1177A>C	ENSP00000492432.1:p.Ser393Arg
ENST00000639369.1:c.27A>C
ENST00000253408.9:c.1177A>C	ENSP00000253408.4:p.Ser393Arg
ENST00000585543.5:n.330A>C
ENST00000586125.1:c.148A>C	ENSP00000467397.1:p.Ser50Arg
ENST00000588640.5:n.557A>C
ENST00000588735.1:c.83-28A>C	ENSP00000466598.1:n.83-28A>C
ENST00000589701.1:n.79A>C
ENST00000591880.1:c.43A>C	ENSP00000467530.1:p.Ser15Arg
ENST00000592706.5:n.49A>C
NM_002055.4:c.1177A>C	NP_002046.1:p.Ser393Arg
NM_001363846.1:c.1297A>C	NP_001350775.1:p.Ser433Arg
XM_024450690.1:c.1501A>C	XP_024306458.1:p.Ser501Arg
XM_024450692.1:c.1381A>C	XP_024306460.1:p.Ser461Arg
NM_002055.5:c.1177A>C MANE Select	NP_002046.1:p.Ser393Arg
NM_001363846.2:c.1297A>C	NP_001350775.1:p.Ser433Arg