Canonical Allele Identifier: CA2165760508
Community Standard Title: NM_000814.6(GABRB3):c.650G= (p.Arg217=)
Gene: GABRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26580351C= , CM000677.2:g.26580351C= GRCh38
NC_000015.9:g.26825498C= , CM000677.1:g.26825498C= GRCh37
NC_000015.8:g.24376591C= NCBI36
NG_012836.1:g.198430G=

Transcript Alleles

HGVS Amino-acid Change
NM_000814.6:c.650G= MANE Select NP_000805.1:p.Arg217=
ENST00000311550.10:c.650G= MANE Select ENSP00000308725.5:p.Arg217=
NM_000814.5:c.650G= NP_000805.1:p.Arg217=
NM_001191320.1:c.395G= NP_001178249.1:p.Arg132=
NM_001191320.2:c.395G= NP_001178249.1:p.Arg132=
NM_001191321.2:c.437G= NP_001178250.1:p.Arg146=
NM_001191321.3:c.437G= NP_001178250.1:p.Arg146=
NM_001278631.1:c.395G= NP_001265560.1:p.Arg132=
NM_001278631.2:c.395G= NP_001265560.1:p.Arg132=
NM_021912.4:c.650G= NP_068712.1:p.Arg217=
NM_021912.5:c.650G= NP_068712.1:p.Arg217=
ENST00000299267.8:c.650G= ENSP00000299267.4:p.Arg217=
ENST00000299267.9:c.650G= ENSP00000299267.4:p.Arg217=
ENST00000311550.9:c.650G= ENSP00000308725.5:p.Arg217=
ENST00000400188.7:c.437G= ENSP00000383049.3:p.Arg146=
ENST00000541819.6:c.818G= ENSP00000442408.2:p.Arg273=
ENST00000545868.4:c.395G= ENSP00000439169.1:p.Arg132=
ENST00000554556.5:c.*111G= ENSP00000451077.1:n.*111G=
ENST00000555094.5:n.562G=
ENST00000555632.5:c.*482G= ENSP00000452041.1:n.*482G=
ENST00000557765.1:n.321G=
ENST00000622697.4:c.395G= ENSP00000481004.1:p.Arg132=
ENST00000628124.2:c.395G= ENSP00000486819.1:p.Arg132=
ENST00000635832.1:n.693G=
ENST00000635994.1:c.333G=
ENST00000636466.1:c.395G= ENSP00000489768.1:p.Arg132=
ENST00000638099.1:c.551G= ENSP00000490678.1:p.Arg184=
XM_011521428.1:c.473G= XP_011519730.1:p.Arg158=
XM_011521428.3:c.473G= XP_011519730.1:p.Arg158=