Canonical Allele Identifier: CA1061861027
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1425345112
gnomAD v3: 4-46123643-T-A
gnomAD v4: 4-46123643-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123643T>A , CM000666.2:g.46123643T>A GRCh38
NC_000004.11:g.46125660T>A , CM000666.1:g.46125660T>A GRCh37
NC_000004.10:g.45820417T>A NCBI36
NG_046964.1:g.5423A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+167A>T MANE Select ENSP00000295452.4:n.104+167A>T
ENST00000295452.4:c.104+167A>T ENSP00000295452.4:n.104+167A>T
NM_173536.3:c.104+167A>T NP_775807.2:n.104+167A>T
NM_173536.4:c.104+167A>T MANE Select NP_775807.2:n.104+167A>T