Canonical Allele Identifier: CA439245696

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408724A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406707A>T , CM000666.2:g.47406707A>T	GRCh38
NC_000004.11:g.47408724A>T , CM000666.1:g.47408724A>T	GRCh37
NC_000004.10:g.47103481A>T	NCBI36
NG_051831.1:g.380430A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.861A>T MANE Select	ENSP00000295454.3:p.Thr287=
ENST00000295454.7:c.861A>T	ENSP00000295454.3:p.Thr287=
NM_000812.3:c.861A>T	NP_000803.2:p.Thr287=
XM_011513678.1:c.840A>T	XP_011511980.1:p.Thr280=
XM_017007985.1:c.210A>T	XP_016863474.1:p.Thr70=
XM_024453976.1:c.762A>T	XP_024309744.1:p.Thr254=
XM_024453977.1:c.762A>T	XP_024309745.1:p.Thr254=
XM_024453978.1:c.762A>T	XP_024309746.1:p.Thr254=
NM_000812.4:c.861A>T MANE Select	NP_000803.2:p.Thr287=