Canonical Allele Identifier: CA1455320388
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1728583869
gnomAD v4: 4-47406674-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406674T>C , CM000666.2:g.47406674T>C GRCh38
NC_000004.11:g.47408691T>C , CM000666.1:g.47408691T>C GRCh37
NC_000004.10:g.47103448T>C NCBI36
NG_051831.1:g.380397T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.836-8T>C MANE Select ENSP00000295454.3:n.836-8T>C
ENST00000295454.7:c.836-8T>C ENSP00000295454.3:n.836-8T>C
NM_000812.3:c.836-8T>C NP_000803.2:n.836-8T>C
XM_011513678.1:c.815-8T>C XP_011511980.1:n.815-8T>C
XM_017007985.1:c.185-8T>C XP_016863474.1:n.185-8T>C
XM_024453976.1:c.737-8T>C XP_024309744.1:n.737-8T>C
XM_024453977.1:c.737-8T>C XP_024309745.1:n.737-8T>C
XM_024453978.1:c.737-8T>C XP_024309746.1:n.737-8T>C
NM_000812.4:c.836-8T>C MANE Select NP_000803.2:n.836-8T>C
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