Canonical Allele Identifier: CA399845429

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42990642A>G (hg19) ; chr17:g.44913274A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913274A>G , CM000679.2:g.44913274A>G	GRCh38
NC_000017.10:g.42990642A>G , CM000679.1:g.42990642A>G	GRCh37
NC_000017.9:g.40346168A>G	NCBI36
NG_008401.1:g.7273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.775T>C	ENSP00000253408.5:p.Ser259Pro
ENST00000435360.8:c.775T>C	ENSP00000403962.1:p.Ser259Pro
ENST00000253408.10:c.775T>C	ENSP00000253408.5:p.Ser259Pro
ENST00000435360.7:c.775T>C	ENSP00000403962.1:p.Ser259Pro
ENST00000586127.6:n.1304T>C
ENST00000586793.6:c.775T>C	ENSP00000468500.2:p.Ser259Pro
ENST00000587997.6:n.251T>C
ENST00000588735.3:c.775T>C MANE Select	ENSP00000466598.2:p.Ser259Pro
ENST00000591327.2:n.1929T>C
ENST00000592320.6:c.618+454T>C	ENSP00000465320.1:n.618+454T>C
ENST00000638281.1:c.775T>C	ENSP00000491088.1:p.Ser259Pro
ENST00000638618.1:c.430T>C	ENSP00000492832.1:p.Ser144Pro
ENST00000639277.1:c.775T>C	ENSP00000492432.1:p.Ser259Pro
ENST00000640552.1:n.789T>C
ENST00000253408.9:c.775T>C	ENSP00000253408.4:p.Ser259Pro
ENST00000376990.8:c.*174T>C	ENSP00000366189.4:n.*174T>C
ENST00000435360.6:c.775T>C	ENSP00000403962.1:p.Ser259Pro
ENST00000586793.5:c.775T>C	ENSP00000468500.1:p.Ser259Pro
ENST00000587997.5:c.251T>C
ENST00000588316.1:c.679T>C	ENSP00000465629.1:p.Ser227Pro
ENST00000588735.1:c.82+2131T>C	ENSP00000466598.1:n.82+2131T>C
ENST00000588957.5:c.43T>C	ENSP00000465565.1:p.Ser15Pro
ENST00000590922.1:n.425T>C
ENST00000592320.5:c.618+454T>C	ENSP00000465320.1:n.618+454T>C
NM_001131019.2:c.775T>C	NP_001124491.1:p.Ser259Pro
NM_001242376.1:c.775T>C	NP_001229305.1:p.Ser259Pro
NM_002055.4:c.775T>C	NP_002046.1:p.Ser259Pro
NM_001363846.1:c.775T>C	NP_001350775.1:p.Ser259Pro
XM_024450690.1:c.979T>C	XP_024306458.1:p.Ser327Pro
XM_024450691.1:c.979T>C	XP_024306459.1:p.Ser327Pro
XM_024450692.1:c.979T>C	XP_024306460.1:p.Ser327Pro
XM_024450693.1:c.979T>C	XP_024306461.1:p.Ser327Pro
NM_002055.5:c.775T>C MANE Select	NP_002046.1:p.Ser259Pro
NM_001131019.3:c.775T>C	NP_001124491.1:p.Ser259Pro
NM_001242376.2:c.775T>C	NP_001229305.1:p.Ser259Pro
NM_001242376.3:c.775T>C	NP_001229305.1:p.Ser259Pro
NM_001363846.2:c.775T>C	NP_001350775.1:p.Ser259Pro