Canonical Allele Identifier: CA2670526637
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-46993675-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993675T>G , CM000666.2:g.46993675T>G GRCh38
NC_000004.11:g.46995692T>G , CM000666.1:g.46995692T>G GRCh37
NC_000004.10:g.46690449T>G NCBI36
NG_011809.1:g.4889A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.3:c.-251A>C (GABRA4) ENSP00000264318.3:n.-251A>C
NM_000809.3:c.-251A>C (GABRA4) NP_000800.2:n.-251A>C
XM_011513677.1:c.-251A>C (GABRA4) XP_011511979.1:n.-251A>C
XM_024453976.1:c.-305T>G (GABRB1) XP_024309744.1:n.-305T>G
XM_024453977.1:c.-343T>G (GABRB1) XP_024309745.1:n.-343T>G
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