Canonical Allele Identifier: CA356803584
Gene: GABRG1 HGNC NCBI

Linked Data

gnomAD v4: 4-46123829-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123829T>A , CM000666.2:g.46123829T>A GRCh38
NC_000004.11:g.46125846T>A , CM000666.1:g.46125846T>A GRCh37
NC_000004.10:g.45820603T>A NCBI36
NG_046964.1:g.5237A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.85A>T MANE Select ENSP00000295452.4:p.Thr29Ser
ENST00000295452.4:c.85A>T ENSP00000295452.4:p.Thr29Ser
NM_173536.3:c.85A>T NP_775807.2:p.Thr29Ser
NM_173536.4:c.85A>T MANE Select NP_775807.2:p.Thr29Ser