Canonical Allele Identifier: CA356811943
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408896G>T (hg19) chr4:g.47406879G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406879G>T , CM000666.2:g.47406879G>T GRCh38
NC_000004.11:g.47408896G>T , CM000666.1:g.47408896G>T GRCh37
NC_000004.10:g.47103653G>T NCBI36
NG_051831.1:g.380602G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1033G>T MANE Select ENSP00000295454.3:p.Asp345Tyr
ENST00000295454.7:c.1033G>T ENSP00000295454.3:p.Asp345Tyr
NM_000812.3:c.1033G>T NP_000803.2:p.Asp345Tyr
XM_011513678.1:c.1012G>T XP_011511980.1:p.Asp338Tyr
XM_017007985.1:c.382G>T XP_016863474.1:p.Asp128Tyr
XM_024453976.1:c.934G>T XP_024309744.1:p.Asp312Tyr
XM_024453977.1:c.934G>T XP_024309745.1:p.Asp312Tyr
XM_024453978.1:c.934G>T XP_024309746.1:p.Asp312Tyr
NM_000812.4:c.1033G>T MANE Select NP_000803.2:p.Asp345Tyr
Search 100 bp 5'
Search 100 bp 3'