Canonical Allele Identifier: CA2165760550
Community Standard Title: NM_000814.6(GABRB3):c.545A= (p.Tyr182=)
Gene: GABRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26580456T= , CM000677.2:g.26580456T= GRCh38
NC_000015.9:g.26825603T= , CM000677.1:g.26825603T= GRCh37
NC_000015.8:g.24376696T= NCBI36
NG_012836.1:g.198325A=

Transcript Alleles

HGVS Amino-acid Change
NM_000814.6:c.545A= MANE Select NP_000805.1:p.Tyr182=
ENST00000311550.10:c.545A= MANE Select ENSP00000308725.5:p.Tyr182=
NM_000814.5:c.545A= NP_000805.1:p.Tyr182=
NM_001191320.1:c.290A= NP_001178249.1:p.Tyr97=
NM_001191320.2:c.290A= NP_001178249.1:p.Tyr97=
NM_001191321.2:c.332A= NP_001178250.1:p.Tyr111=
NM_001191321.3:c.332A= NP_001178250.1:p.Tyr111=
NM_001278631.1:c.290A= NP_001265560.1:p.Tyr97=
NM_001278631.2:c.290A= NP_001265560.1:p.Tyr97=
NM_021912.4:c.545A= NP_068712.1:p.Tyr182=
NM_021912.5:c.545A= NP_068712.1:p.Tyr182=
ENST00000299267.8:c.545A= ENSP00000299267.4:p.Tyr182=
ENST00000299267.9:c.545A= ENSP00000299267.4:p.Tyr182=
ENST00000311550.9:c.545A= ENSP00000308725.5:p.Tyr182=
ENST00000400188.7:c.332A= ENSP00000383049.3:p.Tyr111=
ENST00000541819.6:c.713A= ENSP00000442408.2:p.Tyr238=
ENST00000545868.4:c.290A= ENSP00000439169.1:p.Tyr97=
ENST00000554556.5:c.*6A= ENSP00000451077.1:n.*6A=
ENST00000555094.5:n.457A=
ENST00000555632.5:c.*377A= ENSP00000452041.1:n.*377A=
ENST00000557765.1:n.216A=
ENST00000622697.4:c.290A= ENSP00000481004.1:p.Tyr97=
ENST00000628124.2:c.290A= ENSP00000486819.1:p.Tyr97=
ENST00000635832.1:n.588A=
ENST00000635994.1:c.228A=
ENST00000636466.1:c.290A= ENSP00000489768.1:p.Tyr97=
ENST00000638099.1:c.446A= ENSP00000490678.1:p.Tyr149=
XM_011521428.1:c.368A= XP_011519730.1:p.Tyr123=
XM_011521428.3:c.368A= XP_011519730.1:p.Tyr123=