Canonical Allele Identifier: CA439245758

Gene: GABRB1

Linked Data

• gnomAD v4: 4-47406731-G-A
• MyVariant Identifiers: chr4:g.47408748G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406731G>A , CM000666.2:g.47406731G>A	GRCh38
NC_000004.11:g.47408748G>A , CM000666.1:g.47408748G>A	GRCh37
NC_000004.10:g.47103505G>A	NCBI36
NG_051831.1:g.380454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.885G>A MANE Select	ENSP00000295454.3:p.Glu295=
ENST00000295454.7:c.885G>A	ENSP00000295454.3:p.Glu295=
NM_000812.3:c.885G>A	NP_000803.2:p.Glu295=
XM_011513678.1:c.864G>A	XP_011511980.1:p.Glu288=
XM_017007985.1:c.234G>A	XP_016863474.1:p.Glu78=
XM_024453976.1:c.786G>A	XP_024309744.1:p.Glu262=
XM_024453977.1:c.786G>A	XP_024309745.1:p.Glu262=
XM_024453978.1:c.786G>A	XP_024309746.1:p.Glu262=
NM_000812.4:c.885G>A MANE Select	NP_000803.2:p.Glu295=