Canonical Allele Identifier: CA439236955
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1359446576
gnomAD v2: 4-46125847-C-G
MyVariant Identifiers: chr4:g.46125847C>G (hg19) chr4:g.46123830C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123830C>G , CM000666.2:g.46123830C>G GRCh38
NC_000004.11:g.46125847C>G , CM000666.1:g.46125847C>G GRCh37
NC_000004.10:g.45820604C>G NCBI36
NG_046964.1:g.5236G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.84G>C MANE Select ENSP00000295452.4:p.Leu28=
ENST00000295452.4:c.84G>C ENSP00000295452.4:p.Leu28=
NM_173536.3:c.84G>C NP_775807.2:p.Leu28=
NM_173536.4:c.84G>C MANE Select NP_775807.2:p.Leu28=
Search 100 bp 5'
Search 100 bp 3'