Canonical Allele Identifier: CA1455320805
Gene: GABRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47407062C= , CM000666.2:g.47407062C= GRCh38
NC_000004.11:g.47409079C= , CM000666.1:g.47409079C= GRCh37
NC_000004.10:g.47103836C= NCBI36
NG_051831.1:g.380785C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+136C= MANE Select ENSP00000295454.3:n.1080+136C=
ENST00000295454.7:c.1080+136C= ENSP00000295454.3:n.1080+136C=
NM_000812.3:c.1080+136C= NP_000803.2:n.1080+136C=
XM_011513678.1:c.1059+136C= XP_011511980.1:n.1059+136C=
XM_017007985.1:c.429+136C= XP_016863474.1:n.429+136C=
XM_024453976.1:c.981+136C= XP_024309744.1:n.981+136C=
XM_024453977.1:c.981+136C= XP_024309745.1:n.981+136C=
XM_024453978.1:c.981+136C= XP_024309746.1:n.981+136C=
NM_000812.4:c.1080+136C= MANE Select NP_000803.2:n.1080+136C=