Canonical Allele Identifier: CA551262236
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1311061428
gnomAD v2: 4-46125649-C-G
gnomAD v3: 4-46123632-C-G
gnomAD v4: 4-46123632-C-G
MyVariant Identifiers: chr4:g.46125649C>G (hg19) chr4:g.46123632C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123632C>G , CM000666.2:g.46123632C>G GRCh38
NC_000004.11:g.46125649C>G , CM000666.1:g.46125649C>G GRCh37
NC_000004.10:g.45820406C>G NCBI36
NG_046964.1:g.5434G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+178G>C MANE Select ENSP00000295452.4:n.104+178G>C
ENST00000295452.4:c.104+178G>C ENSP00000295452.4:n.104+178G>C
NM_173536.3:c.104+178G>C NP_775807.2:n.104+178G>C
NM_173536.4:c.104+178G>C MANE Select NP_775807.2:n.104+178G>C
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