Canonical Allele Identifier: CA10588846
Gene: GABRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265863
ClinVar RCV Id: RCV000256298
dbSNP Id: rs886039817

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47403613T>C , CM000666.2:g.47403613T>C GRCh38
NC_000004.11:g.47405630T>C , CM000666.1:g.47405630T>C GRCh37
NC_000004.10:g.47100387T>C NCBI36
NG_051831.1:g.377336T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295454.8:c.737T>C MANE Select ENSP00000295454.3:p.Phe246Ser
ENST00000295454.7:c.737T>C ENSP00000295454.3:p.Phe246Ser
NM_000812.3:c.737T>C NP_000803.2:p.Phe246Ser
XM_011513678.1:c.716T>C XP_011511980.1:p.Phe239Ser
XM_017007985.1:c.86T>C XP_016863474.1:p.Phe29Ser
XM_024453976.1:c.638T>C XP_024309744.1:p.Phe213Ser
XM_024453977.1:c.638T>C XP_024309745.1:p.Phe213Ser
XM_024453978.1:c.638T>C XP_024309746.1:p.Phe213Ser
NM_000812.4:c.737T>C MANE Select NP_000803.2:p.Phe246Ser