Canonical Allele Identifier: CA96639385
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs768595946
gnomAD v2: 4-46929637-A-T
gnomAD v3: 4-46927620-A-T
gnomAD v4: 4-46927620-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46927620A>T , CM000666.2:g.46927620A>T GRCh38
NC_000004.11:g.46929637A>T , CM000666.1:g.46929637A>T GRCh37
NC_000004.10:g.46624394A>T NCBI36
NG_011809.1:g.70944T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.*605T>A MANE Select ENSP00000264318.3:n.*605T>A
ENST00000264318.3:c.*605T>A ENSP00000264318.3:n.*605T>A
NM_000809.3:c.*605T>A NP_000800.2:n.*605T>A
NM_001204266.1:c.*605T>A NP_001191195.1:n.*605T>A
NM_001204267.1:c.*605T>A NP_001191196.1:n.*605T>A
XM_011513677.1:c.*605T>A XP_011511979.1:n.*605T>A
NM_000809.4:c.*605T>A MANE Select NP_000800.2:n.*605T>A
NM_001204266.2:c.*605T>A NP_001191195.1:n.*605T>A
NM_001204267.2:c.*605T>A NP_001191196.1:n.*605T>A