Canonical Allele Identifier: CA2670526493
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-46993581-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993581T>C , CM000666.2:g.46993581T>C GRCh38
NC_000004.11:g.46995598T>C , CM000666.1:g.46995598T>C GRCh37
NC_000004.10:g.46690355T>C NCBI36
NG_011809.1:g.4983A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.-157A>G (GABRA4) MANE Select ENSP00000264318.3:n.-157A>G
ENST00000264318.3:c.-157A>G (GABRA4) ENSP00000264318.3:n.-157A>G
NM_000809.3:c.-157A>G (GABRA4) NP_000800.2:n.-157A>G
XM_011513677.1:c.-157A>G (GABRA4) XP_011511979.1:n.-157A>G
XM_024453977.1:c.-437T>C (GABRB1) XP_024309745.1:n.-437T>C
NM_000809.4:c.-157A>G (GABRA4) MANE Select NP_000800.2:n.-157A>G
NM_001204266.2:c.-146A>G (GABRA4) NP_001191195.1:n.-146A>G
NM_001204267.2:c.-146A>G (GABRA4) NP_001191196.1:n.-146A>G