Canonical Allele Identifier: CA356811906
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408885C>T (hg19) chr4:g.47406868C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406868C>T , CM000666.2:g.47406868C>T GRCh38
NC_000004.11:g.47408885C>T , CM000666.1:g.47408885C>T GRCh37
NC_000004.10:g.47103642C>T NCBI36
NG_051831.1:g.380591C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1022C>T MANE Select ENSP00000295454.3:p.Ala341Val
ENST00000295454.7:c.1022C>T ENSP00000295454.3:p.Ala341Val
NM_000812.3:c.1022C>T NP_000803.2:p.Ala341Val
XM_011513678.1:c.1001C>T XP_011511980.1:p.Ala334Val
XM_017007985.1:c.371C>T XP_016863474.1:p.Ala124Val
XM_024453976.1:c.923C>T XP_024309744.1:p.Ala308Val
XM_024453977.1:c.923C>T XP_024309745.1:p.Ala308Val
XM_024453978.1:c.923C>T XP_024309746.1:p.Ala308Val
NM_000812.4:c.1022C>T MANE Select NP_000803.2:p.Ala341Val
Search 100 bp 5'
Search 100 bp 3'