Canonical Allele Identifier: CA79557112
Gene: GABRR3 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.98007903A>G
gnomAD v4:
chr3-98007903-A-G
Joint Max Group AF 0.00000253 (NFE)
Exomes Max Group AF 0.00000269 (NFE)
dbSNP:
832032
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000472788.6:c.615T>C MANE Select ENSP00000420790.1:p.Tyr205=
ENST00000470589.1:n.501+4441T>C
ENST00000472788.5:c.615T>C ENSP00000420790.1:p.Tyr205=
ENST00000621172.4:c.615T>C ENSP00000481321.1:p.Tyr205=
NM_001105580.2:c.615T>C NP_001099050.1:p.Tyr205=
NM_001105580.3:c.615T>C MANE Select NP_001099050.1:p.Tyr205=
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