Canonical Allele Identifier: CA2165850925
Community Standard Title: NM_000814.6(GABRB3):c.239T= (p.Met80=)
Gene: GABRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26772403A= , CM000677.2:g.26772403A= GRCh38
NC_000015.9:g.27017550A= , CM000677.1:g.27017550A= GRCh37
NC_000015.8:g.24568643A= NCBI36
NG_012836.1:g.6378T=

Transcript Alleles

HGVS Amino-acid Change
NM_000814.6:c.239T= MANE Select NP_000805.1:p.Met80=
ENST00000311550.10:c.239T= MANE Select ENSP00000308725.5:p.Met80=
NM_000814.5:c.239T= NP_000805.1:p.Met80=
NM_001278631.1:c.-113T= NP_001265560.1:n.-113T=
NM_001278631.2:c.-113T= NP_001265560.1:n.-113T=
NM_021912.4:c.239T= NP_068712.1:p.Met80=
NM_021912.5:c.239T= NP_068712.1:p.Met80=
ENST00000299267.8:c.239T= ENSP00000299267.4:p.Met80=
ENST00000299267.9:c.239T= ENSP00000299267.4:p.Met80=
ENST00000311550.9:c.239T= ENSP00000308725.5:p.Met80=
ENST00000541819.6:c.407T= ENSP00000442408.2:p.Met136=
ENST00000554556.5:c.239T= ENSP00000451077.1:p.Met80=
ENST00000554722.1:n.266T=
ENST00000555632.5:c.239T= ENSP00000452041.1:p.Met80=
ENST00000557641.5:n.611T=
ENST00000622697.4:c.-113T= ENSP00000481004.1:n.-113T=
ENST00000638099.1:c.140T= ENSP00000490678.1:p.Met47=