Canonical Allele Identifier: CA2261612635
Community Standard Title: NM_002055.5(GFAP):c.739T= (p.Ser247=)
Gene: GFAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44913310A= , CM000679.2:g.44913310A= GRCh38
NC_000017.10:g.42990678A= , CM000679.1:g.42990678A= GRCh37
NC_000017.9:g.40346204A= NCBI36
NG_008401.1:g.7237T=

Transcript Alleles

HGVS Amino-acid Change
NM_002055.5:c.739T= MANE Select NP_002046.1:p.Ser247=
ENST00000588735.3:c.739T= MANE Select ENSP00000466598.2:p.Ser247=
NM_001131019.2:c.739T= NP_001124491.1:p.Ser247=
NM_001131019.3:c.739T= NP_001124491.1:p.Ser247=
NM_001242376.1:c.739T= NP_001229305.1:p.Ser247=
NM_001242376.2:c.739T= NP_001229305.1:p.Ser247=
NM_001242376.3:c.739T= NP_001229305.1:p.Ser247=
NM_001363846.1:c.739T= NP_001350775.1:p.Ser247=
NM_001363846.2:c.739T= NP_001350775.1:p.Ser247=
NM_002055.4:c.739T= NP_002046.1:p.Ser247=
ENST00000253408.10:c.739T= ENSP00000253408.5:p.Ser247=
ENST00000253408.11:c.739T= ENSP00000253408.5:p.Ser247=
ENST00000253408.9:c.739T= ENSP00000253408.4:p.Ser247=
ENST00000376990.8:c.*138T= ENSP00000366189.4:n.*138T=
ENST00000435360.6:c.739T= ENSP00000403962.1:p.Ser247=
ENST00000435360.7:c.739T= ENSP00000403962.1:p.Ser247=
ENST00000435360.8:c.739T= ENSP00000403962.1:p.Ser247=
ENST00000586127.6:n.1268T=
ENST00000586793.5:c.739T= ENSP00000468500.1:p.Ser247=
ENST00000586793.6:c.739T= ENSP00000468500.2:p.Ser247=
ENST00000587997.5:c.215T=
ENST00000587997.6:n.215T=
ENST00000588316.1:c.643T= ENSP00000465629.1:p.Ser215=
ENST00000588735.1:c.82+2095T= ENSP00000466598.1:n.82+2095T=
ENST00000588957.5:c.7T= ENSP00000465565.1:p.Ser3=
ENST00000590922.1:n.389T=
ENST00000591327.2:n.1893T=
ENST00000592320.5:c.618+418T= ENSP00000465320.1:n.618+418T=
ENST00000592320.6:c.618+418T= ENSP00000465320.1:n.618+418T=
ENST00000638281.1:c.739T= ENSP00000491088.1:p.Ser247=
ENST00000638618.1:c.394T= ENSP00000492832.1:p.Ser132=
ENST00000639277.1:c.739T= ENSP00000492432.1:p.Ser247=
ENST00000640552.1:n.753T=
XM_024450690.1:c.943T= XP_024306458.1:p.Ser315=
XM_024450691.1:c.943T= XP_024306459.1:p.Ser315=
XM_024450692.1:c.943T= XP_024306460.1:p.Ser315=
XM_024450693.1:c.943T= XP_024306461.1:p.Ser315=