Canonical Allele Identifier: CA399846353
Gene: GFAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44913736G>T , CM000679.2:g.44913736G>T GRCh38
NC_000017.10:g.42991104G>T , CM000679.1:g.42991104G>T GRCh37
NC_000017.9:g.40346630G>T NCBI36
NG_008401.1:g.6811C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.610C>A ENSP00000253408.5:p.His204Asn
ENST00000435360.8:c.610C>A ENSP00000403962.1:p.His204Asn
ENST00000253408.10:c.610C>A ENSP00000253408.5:p.His204Asn
ENST00000435360.7:c.610C>A ENSP00000403962.1:p.His204Asn
ENST00000586127.6:n.1139C>A
ENST00000586793.6:c.610C>A ENSP00000468500.2:p.His204Asn
ENST00000588735.3:c.610C>A MANE Select ENSP00000466598.2:p.His204Asn
ENST00000591327.2:n.1764C>A
ENST00000592320.6:c.610C>A ENSP00000465320.1:p.His204Asn
ENST00000638281.1:c.610C>A ENSP00000491088.1:p.His204Asn
ENST00000638618.1:c.265C>A ENSP00000492832.1:p.His89Asn
ENST00000639277.1:c.610C>A ENSP00000492432.1:p.His204Asn
ENST00000640552.1:n.624C>A
ENST00000253408.9:c.610C>A ENSP00000253408.4:p.His204Asn
ENST00000376990.8:c.*9C>A ENSP00000366189.4:n.*9C>A
ENST00000435360.6:c.610C>A ENSP00000403962.1:p.His204Asn
ENST00000585728.5:c.*254C>A ENSP00000465208.1:n.*254C>A
ENST00000586127.5:c.-52C>A ENSP00000464795.1:n.-52C>A
ENST00000586793.5:c.610C>A ENSP00000468500.1:p.His204Asn
ENST00000588316.1:c.522+292C>A ENSP00000465629.1:n.522+292C>A
ENST00000588735.1:c.82+1669C>A ENSP00000466598.1:n.82+1669C>A
ENST00000588957.5:c.-123C>A ENSP00000465565.1:n.-123C>A
ENST00000591327.1:n.563C>A
ENST00000592320.5:c.610C>A ENSP00000465320.1:p.His204Asn
NM_001131019.2:c.610C>A NP_001124491.1:p.His204Asn
NM_001242376.1:c.610C>A NP_001229305.1:p.His204Asn
NM_002055.4:c.610C>A NP_002046.1:p.His204Asn
NM_001363846.1:c.610C>A NP_001350775.1:p.His204Asn
XM_024450690.1:c.814C>A XP_024306458.1:p.His272Asn
XM_024450691.1:c.814C>A XP_024306459.1:p.His272Asn
XM_024450692.1:c.814C>A XP_024306460.1:p.His272Asn
XM_024450693.1:c.814C>A XP_024306461.1:p.His272Asn
NM_002055.5:c.610C>A MANE Select NP_002046.1:p.His204Asn
NM_001131019.3:c.610C>A NP_001124491.1:p.His204Asn
NM_001242376.2:c.610C>A NP_001229305.1:p.His204Asn
NM_001242376.3:c.610C>A NP_001229305.1:p.His204Asn
NM_001363846.2:c.610C>A NP_001350775.1:p.His204Asn