Canonical Allele Identifier: CA356811611

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408815T>A (hg19) ; chr4:g.47406798T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406798T>A , CM000666.2:g.47406798T>A	GRCh38
NC_000004.11:g.47408815T>A , CM000666.1:g.47408815T>A	GRCh37
NC_000004.10:g.47103572T>A	NCBI36
NG_051831.1:g.380521T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.952T>A MANE Select	ENSP00000295454.3:p.Phe318Ile
ENST00000295454.7:c.952T>A	ENSP00000295454.3:p.Phe318Ile
NM_000812.3:c.952T>A	NP_000803.2:p.Phe318Ile
XM_011513678.1:c.931T>A	XP_011511980.1:p.Phe311Ile
XM_017007985.1:c.301T>A	XP_016863474.1:p.Phe101Ile
XM_024453976.1:c.853T>A	XP_024309744.1:p.Phe285Ile
XM_024453977.1:c.853T>A	XP_024309745.1:p.Phe285Ile
XM_024453978.1:c.853T>A	XP_024309746.1:p.Phe285Ile
NM_000812.4:c.952T>A MANE Select	NP_000803.2:p.Phe318Ile