Canonical Allele Identifier: CA489238755

Gene: GABRB3

Linked Data

• gnomAD v4: 15-26561100-T-C
• MyVariant Identifiers: chr15:g.26806247T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561100T>C , CM000677.2:g.26561100T>C	GRCh38
NC_000015.9:g.26806247T>C , CM000677.1:g.26806247T>C	GRCh37
NC_000015.8:g.24357340T>C	NCBI36
NG_012836.1:g.217681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.912A>G	ENSP00000299267.4:p.Lys304=
ENST00000311550.10:c.912A>G MANE Select	ENSP00000308725.5:p.Lys304=
ENST00000635832.1:n.955A>G
ENST00000635994.1:c.595A>G
ENST00000636466.1:c.657A>G	ENSP00000489768.1:p.Lys219=
ENST00000638099.1:c.813A>G	ENSP00000490678.1:p.Lys271=
ENST00000299267.8:c.912A>G	ENSP00000299267.4:p.Lys304=
ENST00000311550.9:c.912A>G	ENSP00000308725.5:p.Lys304=
ENST00000400188.7:c.699A>G	ENSP00000383049.3:p.Lys233=
ENST00000541819.6:c.1080A>G	ENSP00000442408.2:p.Lys360=
ENST00000545868.4:c.657A>G	ENSP00000439169.1:p.Lys219=
ENST00000554556.5:c.*373A>G	ENSP00000451077.1:n.*373A>G
ENST00000555094.5:n.824A>G
ENST00000555632.5:c.*744A>G	ENSP00000452041.1:n.*744A>G
ENST00000622697.4:c.657A>G	ENSP00000481004.1:p.Lys219=
ENST00000628124.2:c.657A>G	ENSP00000486819.1:p.Lys219=
NM_000814.5:c.912A>G	NP_000805.1:p.Lys304=
NM_001191320.1:c.657A>G	NP_001178249.1:p.Lys219=
NM_001191321.2:c.699A>G	NP_001178250.1:p.Lys233=
NM_001278631.1:c.657A>G	NP_001265560.1:p.Lys219=
NM_021912.4:c.912A>G	NP_068712.1:p.Lys304=
XM_011521428.1:c.735A>G	XP_011519730.1:p.Lys245=
XM_011521428.3:c.735A>G	XP_011519730.1:p.Lys245=
NM_000814.6:c.912A>G MANE Select	NP_000805.1:p.Lys304=
NM_001191321.3:c.699A>G	NP_001178250.1:p.Lys233=
NM_021912.5:c.912A>G	NP_068712.1:p.Lys304=
NM_001191320.2:c.657A>G	NP_001178249.1:p.Lys219=
NM_001278631.2:c.657A>G	NP_001265560.1:p.Lys219=