Canonical Allele Identifier: CA1061866165
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1719732357
gnomAD v3: 4-46085758-A-G
gnomAD v4: 4-46085758-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46085758A>G , CM000666.2:g.46085758A>G GRCh38
NC_000004.11:g.46087775A>G , CM000666.1:g.46087775A>G GRCh37
NC_000004.10:g.45782532A>G NCBI36
NG_046964.1:g.43308T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295452.5:c.254-1705T>C MANE Select ENSP00000295452.4:n.254-1705T>C
ENST00000295452.4:c.254-1705T>C ENSP00000295452.4:n.254-1705T>C
NM_173536.3:c.254-1705T>C NP_775807.2:n.254-1705T>C
NM_173536.4:c.254-1705T>C MANE Select NP_775807.2:n.254-1705T>C