Canonical Allele Identifier: CA1455320578
Gene: GABRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406879G= , CM000666.2:g.47406879G= GRCh38
NC_000004.11:g.47408896G= , CM000666.1:g.47408896G= GRCh37
NC_000004.10:g.47103653G= NCBI36
NG_051831.1:g.380602G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1033G= MANE Select ENSP00000295454.3:p.Asp345=
ENST00000295454.7:c.1033G= ENSP00000295454.3:p.Asp345=
NM_000812.3:c.1033G= NP_000803.2:p.Asp345=
XM_011513678.1:c.1012G= XP_011511980.1:p.Asp338=
XM_017007985.1:c.382G= XP_016863474.1:p.Asp128=
XM_024453976.1:c.934G= XP_024309744.1:p.Asp312=
XM_024453977.1:c.934G= XP_024309745.1:p.Asp312=
XM_024453978.1:c.934G= XP_024309746.1:p.Asp312=
NM_000812.4:c.1033G= MANE Select NP_000803.2:p.Asp345=