Canonical Allele Identifier: CA2670526607
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-46993652-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993652G>T , CM000666.2:g.46993652G>T GRCh38
NC_000004.11:g.46995669G>T , CM000666.1:g.46995669G>T GRCh37
NC_000004.10:g.46690426G>T NCBI36
NG_011809.1:g.4912C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.3:c.-228C>A (GABRA4) ENSP00000264318.3:n.-228C>A
NM_000809.3:c.-228C>A (GABRA4) NP_000800.2:n.-228C>A
XM_011513677.1:c.-228C>A (GABRA4) XP_011511979.1:n.-228C>A
XM_024453976.1:c.-328G>T (GABRB1) XP_024309744.1:n.-328G>T
XM_024453977.1:c.-366G>T (GABRB1) XP_024309745.1:n.-366G>T
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