Canonical Allele Identifier: CA1455320426
Gene: GABRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406713C= , CM000666.2:g.47406713C= GRCh38
NC_000004.11:g.47408730C= , CM000666.1:g.47408730C= GRCh37
NC_000004.10:g.47103487C= NCBI36
NG_051831.1:g.380436C=

Transcript Alleles

HGVS Amino-acid change
ENST00000295454.8:c.867C= MANE Select ENSP00000295454.3:p.Ile289=
ENST00000295454.7:c.867C= ENSP00000295454.3:p.Ile289=
NM_000812.3:c.867C= NP_000803.2:p.Ile289=
XM_011513678.1:c.846C= XP_011511980.1:p.Ile282=
XM_017007985.1:c.216C= XP_016863474.1:p.Ile72=
XM_024453976.1:c.768C= XP_024309744.1:p.Ile256=
XM_024453977.1:c.768C= XP_024309745.1:p.Ile256=
XM_024453978.1:c.768C= XP_024309746.1:p.Ile256=
NM_000812.4:c.867C= MANE Select NP_000803.2:p.Ile289=