Canonical Allele Identifier: CA356811256

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408722A>C (hg19) ; chr4:g.47406705A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406705A>C , CM000666.2:g.47406705A>C	GRCh38
NC_000004.11:g.47408722A>C , CM000666.1:g.47408722A>C	GRCh37
NC_000004.10:g.47103479A>C	NCBI36
NG_051831.1:g.380428A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.859A>C MANE Select	ENSP00000295454.3:p.Thr287Pro
ENST00000295454.7:c.859A>C	ENSP00000295454.3:p.Thr287Pro
NM_000812.3:c.859A>C	NP_000803.2:p.Thr287Pro
XM_011513678.1:c.838A>C	XP_011511980.1:p.Thr280Pro
XM_017007985.1:c.208A>C	XP_016863474.1:p.Thr70Pro
XM_024453976.1:c.760A>C	XP_024309744.1:p.Thr254Pro
XM_024453977.1:c.760A>C	XP_024309745.1:p.Thr254Pro
XM_024453978.1:c.760A>C	XP_024309746.1:p.Thr254Pro
NM_000812.4:c.859A>C MANE Select	NP_000803.2:p.Thr287Pro