Canonical Allele Identifier: CA795349405
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1408911620
gnomAD v3: 4-46085725-T-C
gnomAD v4: 4-46085725-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46085725T>C , CM000666.2:g.46085725T>C GRCh38
NC_000004.11:g.46087742T>C , CM000666.1:g.46087742T>C GRCh37
NC_000004.10:g.45782499T>C NCBI36
NG_046964.1:g.43341A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295452.5:c.254-1672A>G MANE Select ENSP00000295452.4:n.254-1672A>G
ENST00000295452.4:c.254-1672A>G ENSP00000295452.4:n.254-1672A>G
NM_173536.3:c.254-1672A>G NP_775807.2:n.254-1672A>G
NM_173536.4:c.254-1672A>G MANE Select NP_775807.2:n.254-1672A>G