Canonical Allele Identifier: CA2670524394
Gene: GABRA4 HGNC NCBI

Linked Data

gnomAD v4: 4-46927628-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46927628T>G , CM000666.2:g.46927628T>G GRCh38
NC_000004.11:g.46929645T>G , CM000666.1:g.46929645T>G GRCh37
NC_000004.10:g.46624402T>G NCBI36
NG_011809.1:g.70936A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.*597A>C MANE Select ENSP00000264318.3:n.*597A>C
ENST00000264318.3:c.*597A>C ENSP00000264318.3:n.*597A>C
NM_000809.3:c.*597A>C NP_000800.2:n.*597A>C
NM_001204266.1:c.*597A>C NP_001191195.1:n.*597A>C
NM_001204267.1:c.*597A>C NP_001191196.1:n.*597A>C
XM_011513677.1:c.*597A>C XP_011511979.1:n.*597A>C
NM_000809.4:c.*597A>C MANE Select NP_000800.2:n.*597A>C
NM_001204266.2:c.*597A>C NP_001191195.1:n.*597A>C
NM_001204267.2:c.*597A>C NP_001191196.1:n.*597A>C
Search 100 bp 5'
Search 100 bp 3'