Canonical Allele Identifier: CA391463974

Gene: GABRB3

Linked Data

• MyVariant Identifiers: chr15:g.26825508C>G (hg19) ; chr15:g.26580361C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580361C>G , CM000677.2:g.26580361C>G	GRCh38
NC_000015.9:g.26825508C>G , CM000677.1:g.26825508C>G	GRCh37
NC_000015.8:g.24376601C>G	NCBI36
NG_012836.1:g.198420G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.640G>C	ENSP00000299267.4:p.Val214Leu
ENST00000311550.10:c.640G>C MANE Select	ENSP00000308725.5:p.Val214Leu
ENST00000635832.1:n.683G>C
ENST00000635994.1:c.323G>C
ENST00000636466.1:c.385G>C	ENSP00000489768.1:p.Val129Leu
ENST00000638099.1:c.541G>C	ENSP00000490678.1:p.Val181Leu
ENST00000299267.8:c.640G>C	ENSP00000299267.4:p.Val214Leu
ENST00000311550.9:c.640G>C	ENSP00000308725.5:p.Val214Leu
ENST00000400188.7:c.427G>C	ENSP00000383049.3:p.Val143Leu
ENST00000541819.6:c.808G>C	ENSP00000442408.2:p.Val270Leu
ENST00000545868.4:c.385G>C	ENSP00000439169.1:p.Val129Leu
ENST00000554556.5:c.*101G>C	ENSP00000451077.1:n.*101G>C
ENST00000555094.5:n.552G>C
ENST00000555632.5:c.*472G>C	ENSP00000452041.1:n.*472G>C
ENST00000557765.1:n.311G>C
ENST00000622697.4:c.385G>C	ENSP00000481004.1:p.Val129Leu
ENST00000628124.2:c.385G>C	ENSP00000486819.1:p.Val129Leu
NM_000814.5:c.640G>C	NP_000805.1:p.Val214Leu
NM_001191320.1:c.385G>C	NP_001178249.1:p.Val129Leu
NM_001191321.2:c.427G>C	NP_001178250.1:p.Val143Leu
NM_001278631.1:c.385G>C	NP_001265560.1:p.Val129Leu
NM_021912.4:c.640G>C	NP_068712.1:p.Val214Leu
XM_011521428.1:c.463G>C	XP_011519730.1:p.Val155Leu
XM_011521428.3:c.463G>C	XP_011519730.1:p.Val155Leu
NM_000814.6:c.640G>C MANE Select	NP_000805.1:p.Val214Leu
NM_001191321.3:c.427G>C	NP_001178250.1:p.Val143Leu
NM_021912.5:c.640G>C	NP_068712.1:p.Val214Leu
NM_001191320.2:c.385G>C	NP_001178249.1:p.Val129Leu
NM_001278631.2:c.385G>C	NP_001265560.1:p.Val129Leu