Canonical Allele Identifier: CA1455320729
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs945165443
gnomAD v4: 4-47406989-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406989G>A , CM000666.2:g.47406989G>A GRCh38
NC_000004.11:g.47409006G>A , CM000666.1:g.47409006G>A GRCh37
NC_000004.10:g.47103763G>A NCBI36
NG_051831.1:g.380712G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+63G>A MANE Select ENSP00000295454.3:n.1080+63G>A
ENST00000295454.7:c.1080+63G>A ENSP00000295454.3:n.1080+63G>A
NM_000812.3:c.1080+63G>A NP_000803.2:n.1080+63G>A
XM_011513678.1:c.1059+63G>A XP_011511980.1:n.1059+63G>A
XM_017007985.1:c.429+63G>A XP_016863474.1:n.429+63G>A
XM_024453976.1:c.981+63G>A XP_024309744.1:n.981+63G>A
XM_024453977.1:c.981+63G>A XP_024309745.1:n.981+63G>A
XM_024453978.1:c.981+63G>A XP_024309746.1:n.981+63G>A
NM_000812.4:c.1080+63G>A MANE Select NP_000803.2:n.1080+63G>A
Search 100 bp 5'
Search 100 bp 3'