Canonical Allele Identifier: CA399838725
Gene: GFAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44908058C>A , CM000679.2:g.44908058C>A GRCh38
NC_000017.10:g.42985426C>A , CM000679.1:g.42985426C>A GRCh37
NC_000017.9:g.40340952C>A NCBI36
NG_008401.1:g.12489G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.1377+6G>T ENSP00000253408.5:n.1377+6G>T
ENST00000253408.10:c.1377+6G>T ENSP00000253408.5:n.1377+6G>T
ENST00000441312.2:n.110+6G>T
ENST00000585543.6:n.410+6G>T
ENST00000586125.2:c.198G>T ENSP00000467397.2:p.Arg66Ser
ENST00000588735.3:c.1257+6G>T MANE Select ENSP00000466598.2:n.1257+6G>T
ENST00000589701.2:n.2164+6G>T
ENST00000591880.2:c.362G>T
ENST00000592065.2:n.625+6G>T
ENST00000638304.1:c.176+6G>T
ENST00000638400.1:c.92+6G>T
ENST00000638488.1:n.721+6G>T
ENST00000638618.1:c.912+6G>T ENSP00000492832.1:n.912+6G>T
ENST00000638921.1:n.190G>T
ENST00000639042.1:c.229+6G>T
ENST00000639243.1:c.13+6G>T
ENST00000639277.1:c.1257+6G>T ENSP00000492432.1:n.1257+6G>T
ENST00000639369.1:c.107+6G>T
ENST00000640545.1:c.63+6G>T ENSP00000491735.1:n.63+6G>T
ENST00000640859.1:c.71+6G>T
ENST00000253408.9:c.1257+6G>T ENSP00000253408.4:n.1257+6G>T
ENST00000585543.5:n.410+6G>T
ENST00000588735.1:c.135+6G>T ENSP00000466598.1:n.135+6G>T
ENST00000589701.1:n.159+6G>T
ENST00000591880.1:c.129G>T ENSP00000467530.1:p.Arg43Ser
ENST00000592065.1:n.51+6G>T
ENST00000592706.5:n.129+6G>T
NM_002055.4:c.1257+6G>T NP_002046.1:n.1257+6G>T
NM_001363846.1:c.1377+6G>T NP_001350775.1:n.1377+6G>T
XM_024450690.1:c.1581+6G>T XP_024306458.1:n.1581+6G>T
XM_024450692.1:c.1461+6G>T XP_024306460.1:n.1461+6G>T
NM_002055.5:c.1257+6G>T MANE Select NP_002046.1:n.1257+6G>T
NM_001363846.2:c.1377+6G>T NP_001350775.1:n.1377+6G>T