Canonical Allele Identifier: CA1455320751
Gene: GABRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47407014T= , CM000666.2:g.47407014T= GRCh38
NC_000004.11:g.47409031T= , CM000666.1:g.47409031T= GRCh37
NC_000004.10:g.47103788T= NCBI36
NG_051831.1:g.380737T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+88T= MANE Select ENSP00000295454.3:n.1080+88T=
ENST00000295454.7:c.1080+88T= ENSP00000295454.3:n.1080+88T=
NM_000812.3:c.1080+88T= NP_000803.2:n.1080+88T=
XM_011513678.1:c.1059+88T= XP_011511980.1:n.1059+88T=
XM_017007985.1:c.429+88T= XP_016863474.1:n.429+88T=
XM_024453976.1:c.981+88T= XP_024309744.1:n.981+88T=
XM_024453977.1:c.981+88T= XP_024309745.1:n.981+88T=
XM_024453978.1:c.981+88T= XP_024309746.1:n.981+88T=
NM_000812.4:c.1080+88T= MANE Select NP_000803.2:n.1080+88T=