Canonical Allele Identifier: CA356803438
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1721170113
gnomAD v3: 4-46123808-A-G
gnomAD v4: 4-46123808-A-G
MyVariant Identifiers: chr4:g.46125825A>G (hg19) chr4:g.46123808A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123808A>G , CM000666.2:g.46123808A>G GRCh38
NC_000004.11:g.46125825A>G , CM000666.1:g.46125825A>G GRCh37
NC_000004.10:g.45820582A>G NCBI36
NG_046964.1:g.5258T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+2T>C MANE Select ENSP00000295452.4:n.104+2T>C
ENST00000295452.4:c.104+2T>C ENSP00000295452.4:n.104+2T>C
NM_173536.3:c.104+2T>C NP_775807.2:n.104+2T>C
NM_173536.4:c.104+2T>C MANE Select NP_775807.2:n.104+2T>C
Search 100 bp 5'
Search 100 bp 3'