Canonical Allele Identifier: CA16619912

Gene: GABRB3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.239T>C	ENSP00000299267.4:p.Met80Thr
ENST00000311550.10:c.239T>C MANE Select	ENSP00000308725.5:p.Met80Thr
ENST00000638099.1:c.140T>C	ENSP00000490678.1:p.Met47Thr
ENST00000299267.8:c.239T>C	ENSP00000299267.4:p.Met80Thr
ENST00000311550.9:c.239T>C	ENSP00000308725.5:p.Met80Thr
ENST00000541819.6:c.407T>C	ENSP00000442408.2:p.Met136Thr
ENST00000554556.5:c.239T>C	ENSP00000451077.1:p.Met80Thr
ENST00000554722.1:n.266T>C
ENST00000555632.5:c.239T>C	ENSP00000452041.1:p.Met80Thr
ENST00000557641.5:n.611T>C
ENST00000622697.4:c.-113T>C	ENSP00000481004.1:n.-113T>C
NM_000814.5:c.239T>C	NP_000805.1:p.Met80Thr
NM_001278631.1:c.-113T>C	NP_001265560.1:n.-113T>C
NM_021912.4:c.239T>C	NP_068712.1:p.Met80Thr
NM_000814.6:c.239T>C MANE Select	NP_000805.1:p.Met80Thr
NM_021912.5:c.239T>C	NP_068712.1:p.Met80Thr
NM_001278631.2:c.-113T>C	NP_001265560.1:n.-113T>C