Canonical Allele Identifier: CA214942

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26773694G>A , CM000677.2:g.26773694G>A	GRCh38
NC_000015.9:g.27018841G>A , CM000677.1:g.27018841G>A	GRCh37
NC_000015.8:g.24569934G>A	NCBI36
NG_012836.1:g.5087C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021912.4:c.31C>T	NP_068712.1:p.Pro11Ser
NM_021912.5:c.31C>T	NP_068712.1:p.Pro11Ser
ENST00000299267.8:c.31C>T	ENSP00000299267.4:p.Pro11Ser
ENST00000299267.9:c.31C>T	ENSP00000299267.4:p.Pro11Ser
ENST00000541819.6:c.249-922C>T	ENSP00000442408.2:n.249-922C>T
ENST00000554722.1:n.58C>T
ENST00000557641.5:n.453-922C>T
ENST00000638099.1:c.-20+249C>T	ENSP00000490678.1:n.-20+249C>T