Canonical Allele Identifier: CA1455320743
Gene: GABRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47407007C= , CM000666.2:g.47407007C= GRCh38
NC_000004.11:g.47409024C= , CM000666.1:g.47409024C= GRCh37
NC_000004.10:g.47103781C= NCBI36
NG_051831.1:g.380730C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+81C= MANE Select ENSP00000295454.3:n.1080+81C=
ENST00000295454.7:c.1080+81C= ENSP00000295454.3:n.1080+81C=
NM_000812.3:c.1080+81C= NP_000803.2:n.1080+81C=
XM_011513678.1:c.1059+81C= XP_011511980.1:n.1059+81C=
XM_017007985.1:c.429+81C= XP_016863474.1:n.429+81C=
XM_024453976.1:c.981+81C= XP_024309744.1:n.981+81C=
XM_024453977.1:c.981+81C= XP_024309745.1:n.981+81C=
XM_024453978.1:c.981+81C= XP_024309746.1:n.981+81C=
NM_000812.4:c.1080+81C= MANE Select NP_000803.2:n.1080+81C=