Canonical Allele Identifier: CA2906480
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs770228084
gnomAD v2: 4-46125876-T-C
gnomAD v3: 4-46123859-T-C
gnomAD v4: 4-46123859-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123859T>C , CM000666.2:g.46123859T>C GRCh38
NC_000004.11:g.46125876T>C , CM000666.1:g.46125876T>C GRCh37
NC_000004.10:g.45820633T>C NCBI36
NG_046964.1:g.5207A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.55A>G MANE Select ENSP00000295452.4:p.Arg19Gly
ENST00000295452.4:c.55A>G ENSP00000295452.4:p.Arg19Gly
NM_173536.3:c.55A>G NP_775807.2:p.Arg19Gly
NM_173536.4:c.55A>G MANE Select NP_775807.2:p.Arg19Gly