Canonical Allele Identifier: CA356812061
Gene: GABRB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406928T>C , CM000666.2:g.47406928T>C GRCh38
NC_000004.11:g.47408945T>C , CM000666.1:g.47408945T>C GRCh37
NC_000004.10:g.47103702T>C NCBI36
NG_051831.1:g.380651T>C

Transcript Alleles

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