Canonical Allele Identifier: CA795412959
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1234561285
gnomAD v3: 4-46993563-C-T
gnomAD v4: 4-46993563-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993563C>T , CM000666.2:g.46993563C>T GRCh38
NC_000004.11:g.46995580C>T , CM000666.1:g.46995580C>T GRCh37
NC_000004.10:g.46690337C>T NCBI36
NG_011809.1:g.5001G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.-139G>A (GABRA4) MANE Select ENSP00000264318.3:n.-139G>A
ENST00000264318.3:c.-139G>A (GABRA4) ENSP00000264318.3:n.-139G>A
NM_000809.3:c.-139G>A (GABRA4) NP_000800.2:n.-139G>A
XM_011513677.1:c.-139G>A (GABRA4) XP_011511979.1:n.-139G>A
XM_024453977.1:c.-455C>T (GABRB1) XP_024309745.1:n.-455C>T
NM_000809.4:c.-139G>A (GABRA4) MANE Select NP_000800.2:n.-139G>A
NM_001204266.2:c.-128G>A (GABRA4) NP_001191195.1:n.-128G>A
NM_001204267.2:c.-128G>A (GABRA4) NP_001191196.1:n.-128G>A