Canonical Allele Identifier: CA356812010
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1269791094
gnomAD v2: 4-47408924-T-A
gnomAD v4: 4-47406907-T-A
MyVariant Identifiers: chr4:g.47408924T>A (hg19) chr4:g.47406907T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406907T>A , CM000666.2:g.47406907T>A GRCh38
NC_000004.11:g.47408924T>A , CM000666.1:g.47408924T>A GRCh37
NC_000004.10:g.47103681T>A NCBI36
NG_051831.1:g.380630T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1061T>A MANE Select ENSP00000295454.3:p.Leu354Gln
ENST00000295454.7:c.1061T>A ENSP00000295454.3:p.Leu354Gln
NM_000812.3:c.1061T>A NP_000803.2:p.Leu354Gln
XM_011513678.1:c.1040T>A XP_011511980.1:p.Leu347Gln
XM_017007985.1:c.410T>A XP_016863474.1:p.Leu137Gln
XM_024453976.1:c.962T>A XP_024309744.1:p.Leu321Gln
XM_024453977.1:c.962T>A XP_024309745.1:p.Leu321Gln
XM_024453978.1:c.962T>A XP_024309746.1:p.Leu321Gln
NM_000812.4:c.1061T>A MANE Select NP_000803.2:p.Leu354Gln
Search 100 bp 5'
Search 100 bp 3'