Canonical Allele Identifier: CA356777819
Gene: GABRA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993367G>T , CM000666.2:g.46993367G>T GRCh38
NC_000004.11:g.46995384G>T , CM000666.1:g.46995384G>T GRCh37
NC_000004.10:g.46690141G>T NCBI36
NG_011809.1:g.5197C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.58C>A MANE Select ENSP00000264318.3:p.Leu20Ile
ENST00000264318.3:c.58C>A ENSP00000264318.3:p.Leu20Ile
ENST00000502874.1:c.58C>A ENSP00000424386.1:p.Leu20Ile
ENST00000508560.5:c.18+40C>A ENSP00000425445.1:n.18+40C>A
ENST00000509316.1:n.182C>A
ENST00000511523.5:c.18+40C>A ENSP00000422152.1:n.18+40C>A
NM_000809.3:c.58C>A NP_000800.2:p.Leu20Ile
NM_001204266.1:c.29+40C>A NP_001191195.1:n.29+40C>A
NM_001204267.1:c.29+40C>A NP_001191196.1:n.29+40C>A
XM_011513677.1:c.58C>A XP_011511979.1:p.Leu20Ile
NM_000809.4:c.58C>A MANE Select NP_000800.2:p.Leu20Ile
NM_001204266.2:c.29+40C>A NP_001191195.1:n.29+40C>A
NM_001204267.2:c.29+40C>A NP_001191196.1:n.29+40C>A