Canonical Allele Identifier: CA2906493
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs751237743
ExAC: 4:46125915 C / T
gnomAD v2: 4-46125915-C-T
gnomAD v4: 4-46123898-C-T
MyVariant Identifiers: chr4:g.46125915C>T (hg19) chr4:g.46123898C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123898C>T , CM000666.2:g.46123898C>T GRCh38
NC_000004.11:g.46125915C>T , CM000666.1:g.46125915C>T GRCh37
NC_000004.10:g.45820672C>T NCBI36
NG_046964.1:g.5168G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.16G>A MANE Select ENSP00000295452.4:p.Ala6Thr
ENST00000295452.4:c.16G>A ENSP00000295452.4:p.Ala6Thr
NM_173536.3:c.16G>A NP_775807.2:p.Ala6Thr
NM_173536.4:c.16G>A MANE Select NP_775807.2:p.Ala6Thr
Search 100 bp 5'
Search 100 bp 3'