Canonical Allele Identifier: CA1061861036
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1721165290
gnomAD v3: 4-46123666-A-C
gnomAD v4: 4-46123666-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123666A>C , CM000666.2:g.46123666A>C GRCh38
NC_000004.11:g.46125683A>C , CM000666.1:g.46125683A>C GRCh37
NC_000004.10:g.45820440A>C NCBI36
NG_046964.1:g.5400T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+144T>G MANE Select ENSP00000295452.4:n.104+144T>G
ENST00000295452.4:c.104+144T>G ENSP00000295452.4:n.104+144T>G
NM_173536.3:c.104+144T>G NP_775807.2:n.104+144T>G
NM_173536.4:c.104+144T>G MANE Select NP_775807.2:n.104+144T>G