Canonical Allele Identifier: CA1455320462
Gene: GABRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406743G= , CM000666.2:g.47406743G= GRCh38
NC_000004.11:g.47408760G= , CM000666.1:g.47408760G= GRCh37
NC_000004.10:g.47103517G= NCBI36
NG_051831.1:g.380466G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.897G= MANE Select ENSP00000295454.3:p.Lys299=
ENST00000295454.7:c.897G= ENSP00000295454.3:p.Lys299=
NM_000812.3:c.897G= NP_000803.2:p.Lys299=
XM_011513678.1:c.876G= XP_011511980.1:p.Lys292=
XM_017007985.1:c.246G= XP_016863474.1:p.Lys82=
XM_024453976.1:c.798G= XP_024309744.1:p.Lys266=
XM_024453977.1:c.798G= XP_024309745.1:p.Lys266=
XM_024453978.1:c.798G= XP_024309746.1:p.Lys266=
NM_000812.4:c.897G= MANE Select NP_000803.2:p.Lys299=