Canonical Allele Identifier: CA2670516201
Gene: GABRG1 HGNC NCBI

Linked Data

gnomAD v4: 4-46123805-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123805C>T , CM000666.2:g.46123805C>T GRCh38
NC_000004.11:g.46125822C>T , CM000666.1:g.46125822C>T GRCh37
NC_000004.10:g.45820579C>T NCBI36
NG_046964.1:g.5261G>A

Transcript Alleles

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