Canonical Allele Identifier: CA1455320802
Gene: GABRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47407059T= , CM000666.2:g.47407059T= GRCh38
NC_000004.11:g.47409076T= , CM000666.1:g.47409076T= GRCh37
NC_000004.10:g.47103833T= NCBI36
NG_051831.1:g.380782T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+133T= MANE Select ENSP00000295454.3:n.1080+133T=
ENST00000295454.7:c.1080+133T= ENSP00000295454.3:n.1080+133T=
NM_000812.3:c.1080+133T= NP_000803.2:n.1080+133T=
XM_011513678.1:c.1059+133T= XP_011511980.1:n.1059+133T=
XM_017007985.1:c.429+133T= XP_016863474.1:n.429+133T=
XM_024453976.1:c.981+133T= XP_024309744.1:n.981+133T=
XM_024453977.1:c.981+133T= XP_024309745.1:n.981+133T=
XM_024453978.1:c.981+133T= XP_024309746.1:n.981+133T=
NM_000812.4:c.1080+133T= MANE Select NP_000803.2:n.1080+133T=