Canonical Allele Identifier: CA399837832
Gene: GFAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44907891A>G , CM000679.2:g.44907891A>G GRCh38
NC_000017.10:g.42985259A>G , CM000679.1:g.42985259A>G GRCh37
NC_000017.9:g.40340785A>G NCBI36
NG_008401.1:g.12656T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.1377+173T>C ENSP00000253408.5:n.1377+173T>C
ENST00000253408.10:c.1377+173T>C ENSP00000253408.5:n.1377+173T>C
ENST00000441312.2:n.110+173T>C
ENST00000585543.6:n.410+173T>C
ENST00000586125.2:c.365T>C ENSP00000467397.2:p.Val122Ala
ENST00000588735.3:c.1257+173T>C MANE Select ENSP00000466598.2:n.1257+173T>C
ENST00000589701.2:n.2164+173T>C
ENST00000591880.2:c.529T>C
ENST00000592065.2:n.625+173T>C
ENST00000638304.1:c.176+173T>C
ENST00000638400.1:c.92+173T>C
ENST00000638488.1:n.721+173T>C
ENST00000638618.1:c.912+173T>C ENSP00000492832.1:n.912+173T>C
ENST00000638921.1:n.357T>C
ENST00000639042.1:c.229+173T>C
ENST00000639243.1:c.13+173T>C
ENST00000639277.1:c.1257+173T>C ENSP00000492432.1:n.1257+173T>C
ENST00000639369.1:c.107+173T>C
ENST00000640545.1:c.63+173T>C ENSP00000491735.1:n.63+173T>C
ENST00000640859.1:c.71+173T>C
ENST00000253408.9:c.1257+173T>C ENSP00000253408.4:n.1257+173T>C
ENST00000585543.5:n.410+173T>C
ENST00000588735.1:c.135+173T>C ENSP00000466598.1:n.135+173T>C
ENST00000589701.1:n.159+173T>C
ENST00000591880.1:c.296T>C ENSP00000467530.1:p.Val99Ala
ENST00000592065.1:n.51+173T>C
ENST00000592706.5:n.129+173T>C
NM_002055.4:c.1257+173T>C NP_002046.1:n.1257+173T>C
NM_001363846.1:c.1377+173T>C NP_001350775.1:n.1377+173T>C
XM_024450690.1:c.1581+173T>C XP_024306458.1:n.1581+173T>C
XM_024450692.1:c.1461+173T>C XP_024306460.1:n.1461+173T>C
NM_002055.5:c.1257+173T>C MANE Select NP_002046.1:n.1257+173T>C
NM_001363846.2:c.1377+173T>C NP_001350775.1:n.1377+173T>C