Canonical Allele Identifier: CA2578079468
Gene: GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-47406973-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406973C>G , CM000666.2:g.47406973C>G GRCh38
NC_000004.11:g.47408990C>G , CM000666.1:g.47408990C>G GRCh37
NC_000004.10:g.47103747C>G NCBI36
NG_051831.1:g.380696C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+47C>G MANE Select ENSP00000295454.3:n.1080+47C>G
ENST00000295454.7:c.1080+47C>G ENSP00000295454.3:n.1080+47C>G
NM_000812.3:c.1080+47C>G NP_000803.2:n.1080+47C>G
XM_011513678.1:c.1059+47C>G XP_011511980.1:n.1059+47C>G
XM_017007985.1:c.429+47C>G XP_016863474.1:n.429+47C>G
XM_024453976.1:c.981+47C>G XP_024309744.1:n.981+47C>G
XM_024453977.1:c.981+47C>G XP_024309745.1:n.981+47C>G
XM_024453978.1:c.981+47C>G XP_024309746.1:n.981+47C>G
NM_000812.4:c.1080+47C>G MANE Select NP_000803.2:n.1080+47C>G
Search 100 bp 5'
Search 100 bp 3'