Canonical Allele Identifier: CA551262235
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1239344590
gnomAD v2: 4-46125644-T-C
gnomAD v3: 4-46123627-T-C
gnomAD v4: 4-46123627-T-C
MyVariant Identifiers: chr4:g.46125644T>C (hg19) chr4:g.46123627T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123627T>C , CM000666.2:g.46123627T>C GRCh38
NC_000004.11:g.46125644T>C , CM000666.1:g.46125644T>C GRCh37
NC_000004.10:g.45820401T>C NCBI36
NG_046964.1:g.5439A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+183A>G MANE Select ENSP00000295452.4:n.104+183A>G
ENST00000295452.4:c.104+183A>G ENSP00000295452.4:n.104+183A>G
NM_173536.3:c.104+183A>G NP_775807.2:n.104+183A>G
NM_173536.4:c.104+183A>G MANE Select NP_775807.2:n.104+183A>G
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