Canonical Allele Identifier: CA356811263

Gene: GABRB1

Linked Data

• ClinVar Variation Id: 1720284
• ClinVar RCV Id: RCV002298062
• MyVariant Identifiers: chr4:g.47408725A>G (hg19) ; chr4:g.47406708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406708A>G , CM000666.2:g.47406708A>G	GRCh38
NC_000004.11:g.47408725A>G , CM000666.1:g.47408725A>G	GRCh37
NC_000004.10:g.47103482A>G	NCBI36
NG_051831.1:g.380431A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.862A>G MANE Select	ENSP00000295454.3:p.Thr288Ala
ENST00000295454.7:c.862A>G	ENSP00000295454.3:p.Thr288Ala
NM_000812.3:c.862A>G	NP_000803.2:p.Thr288Ala
XM_011513678.1:c.841A>G	XP_011511980.1:p.Thr281Ala
XM_017007985.1:c.211A>G	XP_016863474.1:p.Thr71Ala
XM_024453976.1:c.763A>G	XP_024309744.1:p.Thr255Ala
XM_024453977.1:c.763A>G	XP_024309745.1:p.Thr255Ala
XM_024453978.1:c.763A>G	XP_024309746.1:p.Thr255Ala
NM_000812.4:c.862A>G MANE Select	NP_000803.2:p.Thr288Ala