Canonical Allele Identifier: CA2670525206
Gene: GABRA4 HGNC NCBI

Linked Data

gnomAD v4: 4-46971325-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46971325A>G , CM000666.2:g.46971325A>G GRCh38
NC_000004.11:g.46973342A>G , CM000666.1:g.46973342A>G GRCh37
NC_000004.10:g.46668099A>G NCBI36
NG_011809.1:g.27239T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.722-90T>C MANE Select ENSP00000264318.3:n.722-90T>C
ENST00000264318.3:c.722-90T>C ENSP00000264318.3:n.722-90T>C
ENST00000502874.1:c.*492-90T>C ENSP00000424386.1:n.*492-90T>C
ENST00000508560.5:c.*543-90T>C ENSP00000425445.1:n.*543-90T>C
ENST00000511523.5:c.*542+2907T>C ENSP00000422152.1:n.*542+2907T>C
NM_000809.3:c.722-90T>C NP_000800.2:n.722-90T>C
NM_001204266.1:c.665-90T>C NP_001191195.1:n.665-90T>C
NM_001204267.1:c.664+2907T>C NP_001191196.1:n.664+2907T>C
XM_011513677.1:c.721+2907T>C XP_011511979.1:n.721+2907T>C
NM_000809.4:c.722-90T>C MANE Select NP_000800.2:n.722-90T>C
NM_001204266.2:c.665-90T>C NP_001191195.1:n.665-90T>C
NM_001204267.2:c.664+2907T>C NP_001191196.1:n.664+2907T>C