Canonical Allele Identifier: CA649412688
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1721168046
gnomAD v4: 4-46123759-G-T
COSMIC: COSN19041540
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123759G>T , CM000666.2:g.46123759G>T GRCh38
NC_000004.11:g.46125776G>T , CM000666.1:g.46125776G>T GRCh37
NC_000004.10:g.45820533G>T NCBI36
NG_046964.1:g.5307C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+51C>A MANE Select ENSP00000295452.4:n.104+51C>A
ENST00000295452.4:c.104+51C>A ENSP00000295452.4:n.104+51C>A
NM_173536.3:c.104+51C>A NP_775807.2:n.104+51C>A
NM_173536.4:c.104+51C>A MANE Select NP_775807.2:n.104+51C>A
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