Canonical Allele Identifier: CA391463950

Gene: GABRB3

Linked Data

• MyVariant Identifiers: chr15:g.26825498C>G (hg19) ; chr15:g.26580351C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.650G>C	ENSP00000299267.4:p.Arg217Pro
ENST00000311550.10:c.650G>C MANE Select	ENSP00000308725.5:p.Arg217Pro
ENST00000635832.1:n.693G>C
ENST00000635994.1:c.333G>C
ENST00000636466.1:c.395G>C	ENSP00000489768.1:p.Arg132Pro
ENST00000638099.1:c.551G>C	ENSP00000490678.1:p.Arg184Pro
ENST00000299267.8:c.650G>C	ENSP00000299267.4:p.Arg217Pro
ENST00000311550.9:c.650G>C	ENSP00000308725.5:p.Arg217Pro
ENST00000400188.7:c.437G>C	ENSP00000383049.3:p.Arg146Pro
ENST00000541819.6:c.818G>C	ENSP00000442408.2:p.Arg273Pro
ENST00000545868.4:c.395G>C	ENSP00000439169.1:p.Arg132Pro
ENST00000554556.5:c.*111G>C	ENSP00000451077.1:n.*111G>C
ENST00000555094.5:n.562G>C
ENST00000555632.5:c.*482G>C	ENSP00000452041.1:n.*482G>C
ENST00000557765.1:n.321G>C
ENST00000622697.4:c.395G>C	ENSP00000481004.1:p.Arg132Pro
ENST00000628124.2:c.395G>C	ENSP00000486819.1:p.Arg132Pro
NM_000814.5:c.650G>C	NP_000805.1:p.Arg217Pro
NM_001191320.1:c.395G>C	NP_001178249.1:p.Arg132Pro
NM_001191321.2:c.437G>C	NP_001178250.1:p.Arg146Pro
NM_001278631.1:c.395G>C	NP_001265560.1:p.Arg132Pro
NM_021912.4:c.650G>C	NP_068712.1:p.Arg217Pro
XM_011521428.1:c.473G>C	XP_011519730.1:p.Arg158Pro
XM_011521428.3:c.473G>C	XP_011519730.1:p.Arg158Pro
NM_000814.6:c.650G>C MANE Select	NP_000805.1:p.Arg217Pro
NM_001191321.3:c.437G>C	NP_001178250.1:p.Arg146Pro
NM_021912.5:c.650G>C	NP_068712.1:p.Arg217Pro
NM_001191320.2:c.395G>C	NP_001178249.1:p.Arg132Pro
NM_001278631.2:c.395G>C	NP_001265560.1:p.Arg132Pro