Canonical Allele Identifier: CA795333236
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1435764636
gnomAD v3: 4-46123607-A-T
gnomAD v4: 4-46123607-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123607A>T , CM000666.2:g.46123607A>T GRCh38
NC_000004.11:g.46125624A>T , CM000666.1:g.46125624A>T GRCh37
NC_000004.10:g.45820381A>T NCBI36
NG_046964.1:g.5459T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+203T>A MANE Select ENSP00000295452.4:n.104+203T>A
ENST00000295452.4:c.104+203T>A ENSP00000295452.4:n.104+203T>A
NM_173536.3:c.104+203T>A NP_775807.2:n.104+203T>A
NM_173536.4:c.104+203T>A MANE Select NP_775807.2:n.104+203T>A