Canonical Allele Identifier: CA489239615
Community Standard Title: NM_033223.5(GABRG3):c.1125C>T (p.Asn375=)
Gene: GABRG3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27532602C>T , CM000677.2:g.27532602C>T GRCh38
NC_000015.9:g.27777748C>T , CM000677.1:g.27777748C>T GRCh37
NC_000015.8:g.25451343C>T NCBI36
NG_032887.1:g.566320C>T
NG_032887.2:g.566422C>T

Transcript Alleles

HGVS Amino-acid Change
NM_033223.5:c.1125C>T MANE Select NP_150092.2:p.Asn375=
ENST00000615808.5:c.1125C>T MANE Select ENSP00000479113.1:p.Asn375=
NM_033223.4:c.1125C>T NP_150092.2:p.Asn375=
ENST00000333743.10:c.588C>T ENSP00000331912.7:p.Asn196=
ENST00000615808.4:c.1125C>T ENSP00000479113.1:p.Asn375=
XM_011521430.1:c.1143C>T XP_011519732.1:p.Asn381=
XM_011521430.3:c.1143C>T XP_011519732.1:p.Asn381=
XM_011521431.1:c.618C>T XP_011519733.1:p.Asn206=
XM_011521431.3:c.618C>T XP_011519733.1:p.Asn206=
XM_011521432.1:c.549C>T XP_011519734.1:p.Asn183=
XM_017022058.2:c.807C>T XP_016877547.1:p.Asn269=
XM_017022059.2:c.789C>T XP_016877548.1:p.Asn263=
XM_017022060.2:c.618C>T XP_016877549.1:p.Asn206=
XM_024449889.1:c.789C>T XP_024305657.1:p.Asn263=