Canonical Allele Identifier: CA2670529706
Gene: GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-47406944-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406944C>A , CM000666.2:g.47406944C>A GRCh38
NC_000004.11:g.47408961C>A , CM000666.1:g.47408961C>A GRCh37
NC_000004.10:g.47103718C>A NCBI36
NG_051831.1:g.380667C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+18C>A MANE Select ENSP00000295454.3:n.1080+18C>A
ENST00000295454.7:c.1080+18C>A ENSP00000295454.3:n.1080+18C>A
NM_000812.3:c.1080+18C>A NP_000803.2:n.1080+18C>A
XM_011513678.1:c.1059+18C>A XP_011511980.1:n.1059+18C>A
XM_017007985.1:c.429+18C>A XP_016863474.1:n.429+18C>A
XM_024453976.1:c.981+18C>A XP_024309744.1:n.981+18C>A
XM_024453977.1:c.981+18C>A XP_024309745.1:n.981+18C>A
XM_024453978.1:c.981+18C>A XP_024309746.1:n.981+18C>A
NM_000812.4:c.1080+18C>A MANE Select NP_000803.2:n.1080+18C>A