Canonical Allele Identifier: CA356811912
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408887A>T (hg19) chr4:g.47406870A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406870A>T , CM000666.2:g.47406870A>T GRCh38
NC_000004.11:g.47408887A>T , CM000666.1:g.47408887A>T GRCh37
NC_000004.10:g.47103644A>T NCBI36
NG_051831.1:g.380593A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1024A>T MANE Select ENSP00000295454.3:p.Ser342Cys
ENST00000295454.7:c.1024A>T ENSP00000295454.3:p.Ser342Cys
NM_000812.3:c.1024A>T NP_000803.2:p.Ser342Cys
XM_011513678.1:c.1003A>T XP_011511980.1:p.Ser335Cys
XM_017007985.1:c.373A>T XP_016863474.1:p.Ser125Cys
XM_024453976.1:c.925A>T XP_024309744.1:p.Ser309Cys
XM_024453977.1:c.925A>T XP_024309745.1:p.Ser309Cys
XM_024453978.1:c.925A>T XP_024309746.1:p.Ser309Cys
NM_000812.4:c.1024A>T MANE Select NP_000803.2:p.Ser342Cys
Search 100 bp 5'
Search 100 bp 3'