Canonical Allele Identifier: CA439245687
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408712G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406695G>T , CM000666.2:g.47406695G>T GRCh38
NC_000004.11:g.47408712G>T , CM000666.1:g.47408712G>T GRCh37
NC_000004.10:g.47103469G>T NCBI36
NG_051831.1:g.380418G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.849G>T MANE Select ENSP00000295454.3:p.Val283=
ENST00000295454.7:c.849G>T ENSP00000295454.3:p.Val283=
NM_000812.3:c.849G>T NP_000803.2:p.Val283=
XM_011513678.1:c.828G>T XP_011511980.1:p.Val276=
XM_017007985.1:c.198G>T XP_016863474.1:p.Val66=
XM_024453976.1:c.750G>T XP_024309744.1:p.Val250=
XM_024453977.1:c.750G>T XP_024309745.1:p.Val250=
XM_024453978.1:c.750G>T XP_024309746.1:p.Val250=
NM_000812.4:c.849G>T MANE Select NP_000803.2:p.Val283=