Canonical Allele Identifier: CA391465824

Gene: GABRB3

Linked Data

• MyVariant Identifiers: chr15:g.27018846A>T (hg19) ; chr15:g.26773699A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26773699A>T , CM000677.2:g.26773699A>T	GRCh38
NC_000015.9:g.27018846A>T , CM000677.1:g.27018846A>T	GRCh37
NC_000015.8:g.24569939A>T	NCBI36
NG_012836.1:g.5082T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.26T>A	ENSP00000299267.4:p.Leu9Gln
ENST00000638099.1:c.-20+244T>A	ENSP00000490678.1:n.-20+244T>A
ENST00000299267.8:c.26T>A	ENSP00000299267.4:p.Leu9Gln
ENST00000541819.6:c.249-927T>A	ENSP00000442408.2:n.249-927T>A
ENST00000554722.1:n.53T>A
ENST00000557641.5:n.453-927T>A
NM_021912.4:c.26T>A	NP_068712.1:p.Leu9Gln
NM_021912.5:c.26T>A	NP_068712.1:p.Leu9Gln