Canonical Allele Identifier: CA439245750

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408736C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406719C>G , CM000666.2:g.47406719C>G	GRCh38
NC_000004.11:g.47408736C>G , CM000666.1:g.47408736C>G	GRCh37
NC_000004.10:g.47103493C>G	NCBI36
NG_051831.1:g.380442C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.873C>G MANE Select	ENSP00000295454.3:p.Thr291=
ENST00000295454.7:c.873C>G	ENSP00000295454.3:p.Thr291=
NM_000812.3:c.873C>G	NP_000803.2:p.Thr291=
XM_011513678.1:c.852C>G	XP_011511980.1:p.Thr284=
XM_017007985.1:c.222C>G	XP_016863474.1:p.Thr74=
XM_024453976.1:c.774C>G	XP_024309744.1:p.Thr258=
XM_024453977.1:c.774C>G	XP_024309745.1:p.Thr258=
XM_024453978.1:c.774C>G	XP_024309746.1:p.Thr258=
NM_000812.4:c.873C>G MANE Select	NP_000803.2:p.Thr291=