Canonical Allele Identifier: CA2516444677
Gene: GABRG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123742A>G , CM000666.2:g.46123742A>G GRCh38
NC_000004.11:g.46125759A>G , CM000666.1:g.46125759A>G GRCh37
NC_000004.10:g.45820516A>G NCBI36
NG_046964.1:g.5324T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+68T>C MANE Select ENSP00000295452.4:n.104+68T>C
ENST00000295452.4:c.104+68T>C ENSP00000295452.4:n.104+68T>C
NM_173536.3:c.104+68T>C NP_775807.2:n.104+68T>C
NM_173536.4:c.104+68T>C MANE Select NP_775807.2:n.104+68T>C