Canonical Allele Identifier: CA795333237
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1348062038
gnomAD v3: 4-46123612-C-T
gnomAD v4: 4-46123612-C-T
MyVariant Identifiers: chr4:g.46125629C>T (hg19) chr4:g.46123612C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123612C>T , CM000666.2:g.46123612C>T GRCh38
NC_000004.11:g.46125629C>T , CM000666.1:g.46125629C>T GRCh37
NC_000004.10:g.45820386C>T NCBI36
NG_046964.1:g.5454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+198G>A MANE Select ENSP00000295452.4:n.104+198G>A
ENST00000295452.4:c.104+198G>A ENSP00000295452.4:n.104+198G>A
NM_173536.3:c.104+198G>A NP_775807.2:n.104+198G>A
NM_173536.4:c.104+198G>A MANE Select NP_775807.2:n.104+198G>A
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