Canonical Allele Identifier: CA399837858
Gene: GFAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44907897G>A , CM000679.2:g.44907897G>A GRCh38
NC_000017.10:g.42985265G>A , CM000679.1:g.42985265G>A GRCh37
NC_000017.9:g.40340791G>A NCBI36
NG_008401.1:g.12650C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.1377+167C>T ENSP00000253408.5:n.1377+167C>T
ENST00000253408.10:c.1377+167C>T ENSP00000253408.5:n.1377+167C>T
ENST00000441312.2:n.110+167C>T
ENST00000585543.6:n.410+167C>T
ENST00000586125.2:c.359C>T ENSP00000467397.2:p.Ser120Phe
ENST00000588735.3:c.1257+167C>T MANE Select ENSP00000466598.2:n.1257+167C>T
ENST00000589701.2:n.2164+167C>T
ENST00000591880.2:c.523C>T
ENST00000592065.2:n.625+167C>T
ENST00000638304.1:c.176+167C>T
ENST00000638400.1:c.92+167C>T
ENST00000638488.1:n.721+167C>T
ENST00000638618.1:c.912+167C>T ENSP00000492832.1:n.912+167C>T
ENST00000638921.1:n.351C>T
ENST00000639042.1:c.229+167C>T
ENST00000639243.1:c.13+167C>T
ENST00000639277.1:c.1257+167C>T ENSP00000492432.1:n.1257+167C>T
ENST00000639369.1:c.107+167C>T
ENST00000640545.1:c.63+167C>T ENSP00000491735.1:n.63+167C>T
ENST00000640859.1:c.71+167C>T
ENST00000253408.9:c.1257+167C>T ENSP00000253408.4:n.1257+167C>T
ENST00000585543.5:n.410+167C>T
ENST00000588735.1:c.135+167C>T ENSP00000466598.1:n.135+167C>T
ENST00000589701.1:n.159+167C>T
ENST00000591880.1:c.290C>T ENSP00000467530.1:p.Ser97Phe
ENST00000592065.1:n.51+167C>T
ENST00000592706.5:n.129+167C>T
NM_002055.4:c.1257+167C>T NP_002046.1:n.1257+167C>T
NM_001363846.1:c.1377+167C>T NP_001350775.1:n.1377+167C>T
XM_024450690.1:c.1581+167C>T XP_024306458.1:n.1581+167C>T
XM_024450692.1:c.1461+167C>T XP_024306460.1:n.1461+167C>T
NM_002055.5:c.1257+167C>T MANE Select NP_002046.1:n.1257+167C>T
NM_001363846.2:c.1377+167C>T NP_001350775.1:n.1377+167C>T