Canonical Allele Identifier: CA2670516163
Gene: GABRG1 HGNC NCBI

Linked Data

gnomAD v4: 4-46123702-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123702A>T , CM000666.2:g.46123702A>T GRCh38
NC_000004.11:g.46125719A>T , CM000666.1:g.46125719A>T GRCh37
NC_000004.10:g.45820476A>T NCBI36
NG_046964.1:g.5364T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+108T>A MANE Select ENSP00000295452.4:n.104+108T>A
ENST00000295452.4:c.104+108T>A ENSP00000295452.4:n.104+108T>A
NM_173536.3:c.104+108T>A NP_775807.2:n.104+108T>A
NM_173536.4:c.104+108T>A MANE Select NP_775807.2:n.104+108T>A