Canonical Allele Identifier: CA1455320570
Gene: GABRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406870A= , CM000666.2:g.47406870A= GRCh38
NC_000004.11:g.47408887A= , CM000666.1:g.47408887A= GRCh37
NC_000004.10:g.47103644A= NCBI36
NG_051831.1:g.380593A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1024A= MANE Select ENSP00000295454.3:p.Ser342=
ENST00000295454.7:c.1024A= ENSP00000295454.3:p.Ser342=
NM_000812.3:c.1024A= NP_000803.2:p.Ser342=
XM_011513678.1:c.1003A= XP_011511980.1:p.Ser335=
XM_017007985.1:c.373A= XP_016863474.1:p.Ser125=
XM_024453976.1:c.925A= XP_024309744.1:p.Ser309=
XM_024453977.1:c.925A= XP_024309745.1:p.Ser309=
XM_024453978.1:c.925A= XP_024309746.1:p.Ser309=
NM_000812.4:c.1024A= MANE Select NP_000803.2:p.Ser342=