Canonical Allele Identifier: CA2670526475
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-46993567-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993567C>A , CM000666.2:g.46993567C>A GRCh38
NC_000004.11:g.46995584C>A , CM000666.1:g.46995584C>A GRCh37
NC_000004.10:g.46690341C>A NCBI36
NG_011809.1:g.4997G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.-143G>T (GABRA4) MANE Select ENSP00000264318.3:n.-143G>T
ENST00000264318.3:c.-143G>T (GABRA4) ENSP00000264318.3:n.-143G>T
NM_000809.3:c.-143G>T (GABRA4) NP_000800.2:n.-143G>T
XM_011513677.1:c.-143G>T (GABRA4) XP_011511979.1:n.-143G>T
XM_024453977.1:c.-451C>A (GABRB1) XP_024309745.1:n.-451C>A
NM_000809.4:c.-143G>T (GABRA4) MANE Select NP_000800.2:n.-143G>T
NM_001204266.2:c.-132G>T (GABRA4) NP_001191195.1:n.-132G>T
NM_001204267.2:c.-132G>T (GABRA4) NP_001191196.1:n.-132G>T