Canonical Allele Identifier: CA2627364174

Gene: GABRB3

Linked Data

• gnomAD v4: 15-26773707-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26773707C>A , CM000677.2:g.26773707C>A	GRCh38
NC_000015.9:g.27018854C>A , CM000677.1:g.27018854C>A	GRCh37
NC_000015.8:g.24569947C>A	NCBI36
NG_012836.1:g.5074G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.18G>T	ENSP00000299267.4:p.Leu6=
ENST00000638099.1:c.-20+236G>T	ENSP00000490678.1:n.-20+236G>T
ENST00000299267.8:c.18G>T	ENSP00000299267.4:p.Leu6=
ENST00000541819.6:c.249-935G>T	ENSP00000442408.2:n.249-935G>T
ENST00000554722.1:n.45G>T
ENST00000557641.5:n.453-935G>T
NM_021912.4:c.18G>T	NP_068712.1:p.Leu6=
NM_021912.5:c.18G>T	NP_068712.1:p.Leu6=