Canonical Allele Identifier: CA391463971

Gene: GABRB3

Linked Data

• MyVariant Identifiers: chr15:g.26825507A>G (hg19) ; chr15:g.26580360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580360A>G , CM000677.2:g.26580360A>G	GRCh38
NC_000015.9:g.26825507A>G , CM000677.1:g.26825507A>G	GRCh37
NC_000015.8:g.24376600A>G	NCBI36
NG_012836.1:g.198421T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.641T>C	ENSP00000299267.4:p.Val214Ala
ENST00000311550.10:c.641T>C MANE Select	ENSP00000308725.5:p.Val214Ala
ENST00000635832.1:n.684T>C
ENST00000635994.1:c.324T>C
ENST00000636466.1:c.386T>C	ENSP00000489768.1:p.Val129Ala
ENST00000638099.1:c.542T>C	ENSP00000490678.1:p.Val181Ala
ENST00000299267.8:c.641T>C	ENSP00000299267.4:p.Val214Ala
ENST00000311550.9:c.641T>C	ENSP00000308725.5:p.Val214Ala
ENST00000400188.7:c.428T>C	ENSP00000383049.3:p.Val143Ala
ENST00000541819.6:c.809T>C	ENSP00000442408.2:p.Val270Ala
ENST00000545868.4:c.386T>C	ENSP00000439169.1:p.Val129Ala
ENST00000554556.5:c.*102T>C	ENSP00000451077.1:n.*102T>C
ENST00000555094.5:n.553T>C
ENST00000555632.5:c.*473T>C	ENSP00000452041.1:n.*473T>C
ENST00000557765.1:n.312T>C
ENST00000622697.4:c.386T>C	ENSP00000481004.1:p.Val129Ala
ENST00000628124.2:c.386T>C	ENSP00000486819.1:p.Val129Ala
NM_000814.5:c.641T>C	NP_000805.1:p.Val214Ala
NM_001191320.1:c.386T>C	NP_001178249.1:p.Val129Ala
NM_001191321.2:c.428T>C	NP_001178250.1:p.Val143Ala
NM_001278631.1:c.386T>C	NP_001265560.1:p.Val129Ala
NM_021912.4:c.641T>C	NP_068712.1:p.Val214Ala
XM_011521428.1:c.464T>C	XP_011519730.1:p.Val155Ala
XM_011521428.3:c.464T>C	XP_011519730.1:p.Val155Ala
NM_000814.6:c.641T>C MANE Select	NP_000805.1:p.Val214Ala
NM_001191321.3:c.428T>C	NP_001178250.1:p.Val143Ala
NM_021912.5:c.641T>C	NP_068712.1:p.Val214Ala
NM_001191320.2:c.386T>C	NP_001178249.1:p.Val129Ala
NM_001278631.2:c.386T>C	NP_001265560.1:p.Val129Ala