Canonical Allele Identifier: CA551159505
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs1227152166
gnomAD v2: 4-46995533-G-T
gnomAD v3: 4-46993516-G-T
gnomAD v4: 4-46993516-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993516G>T , CM000666.2:g.46993516G>T GRCh38
NC_000004.11:g.46995533G>T , CM000666.1:g.46995533G>T GRCh37
NC_000004.10:g.46690290G>T NCBI36
NG_011809.1:g.5048C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.-92C>A MANE Select ENSP00000264318.3:n.-92C>A
ENST00000264318.3:c.-92C>A ENSP00000264318.3:n.-92C>A
ENST00000502874.1:c.-92C>A ENSP00000424386.1:n.-92C>A
ENST00000509316.1:n.33C>A
NM_000809.3:c.-92C>A NP_000800.2:n.-92C>A
XM_011513677.1:c.-92C>A XP_011511979.1:n.-92C>A
NM_000809.4:c.-92C>A MANE Select NP_000800.2:n.-92C>A
NM_001204266.2:c.-81C>A NP_001191195.1:n.-81C>A
NM_001204267.2:c.-81C>A NP_001191196.1:n.-81C>A