Canonical Allele Identifier: CA795349408
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1252858826
gnomAD v3: 4-46085727-G-T
gnomAD v4: 4-46085727-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46085727G>T , CM000666.2:g.46085727G>T GRCh38
NC_000004.11:g.46087744G>T , CM000666.1:g.46087744G>T GRCh37
NC_000004.10:g.45782501G>T NCBI36
NG_046964.1:g.43339C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295452.5:c.254-1674C>A MANE Select ENSP00000295452.4:n.254-1674C>A
ENST00000295452.4:c.254-1674C>A ENSP00000295452.4:n.254-1674C>A
NM_173536.3:c.254-1674C>A NP_775807.2:n.254-1674C>A
NM_173536.4:c.254-1674C>A MANE Select NP_775807.2:n.254-1674C>A