Canonical Allele Identifier: CA1455320789
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1267814599
gnomAD v4: 4-47407039-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47407039G>C , CM000666.2:g.47407039G>C GRCh38
NC_000004.11:g.47409056G>C , CM000666.1:g.47409056G>C GRCh37
NC_000004.10:g.47103813G>C NCBI36
NG_051831.1:g.380762G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+113G>C MANE Select ENSP00000295454.3:n.1080+113G>C
ENST00000295454.7:c.1080+113G>C ENSP00000295454.3:n.1080+113G>C
NM_000812.3:c.1080+113G>C NP_000803.2:n.1080+113G>C
XM_011513678.1:c.1059+113G>C XP_011511980.1:n.1059+113G>C
XM_017007985.1:c.429+113G>C XP_016863474.1:n.429+113G>C
XM_024453976.1:c.981+113G>C XP_024309744.1:n.981+113G>C
XM_024453977.1:c.981+113G>C XP_024309745.1:n.981+113G>C
XM_024453978.1:c.981+113G>C XP_024309746.1:n.981+113G>C
NM_000812.4:c.1080+113G>C MANE Select NP_000803.2:n.1080+113G>C
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