Canonical Allele Identifier: CA97039385

Gene: GABRG1

Linked Data

• dbSNP Id: rs964433416
• gnomAD v3: 4-46123731-A-T
• gnomAD v4: 4-46123731-A-T
• MyVariant Identifiers: chr4:g.46125748A>T (hg19) ; chr4:g.46123731A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46123731A>T , CM000666.2:g.46123731A>T	GRCh38
NC_000004.11:g.46125748A>T , CM000666.1:g.46125748A>T	GRCh37
NC_000004.10:g.45820505A>T	NCBI36
NG_046964.1:g.5335T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295452.5:c.104+79T>A MANE Select	ENSP00000295452.4:n.104+79T>A
ENST00000295452.4:c.104+79T>A	ENSP00000295452.4:n.104+79T>A
NM_173536.3:c.104+79T>A	NP_775807.2:n.104+79T>A
NM_173536.4:c.104+79T>A MANE Select	NP_775807.2:n.104+79T>A