Canonical Allele Identifier: CA356811266

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408726C>T (hg19) ; chr4:g.47406709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406709C>T , CM000666.2:g.47406709C>T	GRCh38
NC_000004.11:g.47408726C>T , CM000666.1:g.47408726C>T	GRCh37
NC_000004.10:g.47103483C>T	NCBI36
NG_051831.1:g.380432C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.863C>T MANE Select	ENSP00000295454.3:p.Thr288Ile
ENST00000295454.7:c.863C>T	ENSP00000295454.3:p.Thr288Ile
NM_000812.3:c.863C>T	NP_000803.2:p.Thr288Ile
XM_011513678.1:c.842C>T	XP_011511980.1:p.Thr281Ile
XM_017007985.1:c.212C>T	XP_016863474.1:p.Thr71Ile
XM_024453976.1:c.764C>T	XP_024309744.1:p.Thr255Ile
XM_024453977.1:c.764C>T	XP_024309745.1:p.Thr255Ile
XM_024453978.1:c.764C>T	XP_024309746.1:p.Thr255Ile
NM_000812.4:c.863C>T MANE Select	NP_000803.2:p.Thr288Ile