Canonical Allele Identifier: CA356811260

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408723C>G (hg19) ; chr4:g.47406706C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406706C>G , CM000666.2:g.47406706C>G	GRCh38
NC_000004.11:g.47408723C>G , CM000666.1:g.47408723C>G	GRCh37
NC_000004.10:g.47103480C>G	NCBI36
NG_051831.1:g.380429C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.860C>G MANE Select	ENSP00000295454.3:p.Thr287Arg
ENST00000295454.7:c.860C>G	ENSP00000295454.3:p.Thr287Arg
NM_000812.3:c.860C>G	NP_000803.2:p.Thr287Arg
XM_011513678.1:c.839C>G	XP_011511980.1:p.Thr280Arg
XM_017007985.1:c.209C>G	XP_016863474.1:p.Thr70Arg
XM_024453976.1:c.761C>G	XP_024309744.1:p.Thr254Arg
XM_024453977.1:c.761C>G	XP_024309745.1:p.Thr254Arg
XM_024453978.1:c.761C>G	XP_024309746.1:p.Thr254Arg
NM_000812.4:c.860C>G MANE Select	NP_000803.2:p.Thr287Arg