Canonical Allele Identifier: CA79557113
Gene: GABRR3 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.98007903A>T
gnomAD v3:
3:98007903 A / T
gnomAD v4:
chr3-98007903-A-T
Joint Max Group AF 0.27679738 (AFR)
Genomes Max Group AF 0.27196102 (AFR)
Exomes Max Group AF 0.280108 (AFR)
ClinVar RCV:
RCV004698954
ClinVar Variation:
3338473
dbSNP:
832032
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98007903A>T , CM000665.2:g.98007903A>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000472788.6:c.615T>A MANE Select ENSP00000420790.1:p.Tyr205Ter
ENST00000470589.1:n.501+4441T>A
ENST00000472788.5:c.615T>A ENSP00000420790.1:p.Tyr205Ter
ENST00000621172.4:c.615T>A ENSP00000481321.1:p.Tyr205Ter
NM_001105580.2:c.615T>A NP_001099050.1:p.Tyr205Ter
NM_001105580.3:c.615T>A MANE Select NP_001099050.1:p.Tyr205Ter
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