Canonical Allele Identifier: CA2670526481
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-46993570-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993570C>G , CM000666.2:g.46993570C>G GRCh38
NC_000004.11:g.46995587C>G , CM000666.1:g.46995587C>G GRCh37
NC_000004.10:g.46690344C>G NCBI36
NG_011809.1:g.4994G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.-146G>C (GABRA4) MANE Select ENSP00000264318.3:n.-146G>C
ENST00000264318.3:c.-146G>C (GABRA4) ENSP00000264318.3:n.-146G>C
NM_000809.3:c.-146G>C (GABRA4) NP_000800.2:n.-146G>C
XM_011513677.1:c.-146G>C (GABRA4) XP_011511979.1:n.-146G>C
XM_024453977.1:c.-448C>G (GABRB1) XP_024309745.1:n.-448C>G
NM_000809.4:c.-146G>C (GABRA4) MANE Select NP_000800.2:n.-146G>C
NM_001204266.2:c.-135G>C (GABRA4) NP_001191195.1:n.-135G>C
NM_001204267.2:c.-135G>C (GABRA4) NP_001191196.1:n.-135G>C
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