Canonical Allele Identifier: CA1455320731
Gene: GABRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406990C= , CM000666.2:g.47406990C= GRCh38
NC_000004.11:g.47409007C= , CM000666.1:g.47409007C= GRCh37
NC_000004.10:g.47103764C= NCBI36
NG_051831.1:g.380713C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+64C= MANE Select ENSP00000295454.3:n.1080+64C=
ENST00000295454.7:c.1080+64C= ENSP00000295454.3:n.1080+64C=
NM_000812.3:c.1080+64C= NP_000803.2:n.1080+64C=
XM_011513678.1:c.1059+64C= XP_011511980.1:n.1059+64C=
XM_017007985.1:c.429+64C= XP_016863474.1:n.429+64C=
XM_024453976.1:c.981+64C= XP_024309744.1:n.981+64C=
XM_024453977.1:c.981+64C= XP_024309745.1:n.981+64C=
XM_024453978.1:c.981+64C= XP_024309746.1:n.981+64C=
NM_000812.4:c.1080+64C= MANE Select NP_000803.2:n.1080+64C=