Canonical Allele Identifier: CA2906504
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs567761249
ExAC: 4:46125938 G / A
gnomAD v2: 4-46125938-G-A
MyVariant Identifiers: chr4:g.46125938G>A (hg19) chr4:g.46123921G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123921G>A , CM000666.2:g.46123921G>A GRCh38
NC_000004.11:g.46125938G>A , CM000666.1:g.46125938G>A GRCh37
NC_000004.10:g.45820695G>A NCBI36
NG_046964.1:g.5145C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.-8C>T MANE Select ENSP00000295452.4:n.-8C>T
ENST00000295452.4:c.-8C>T ENSP00000295452.4:n.-8C>T
NM_173536.3:c.-8C>T NP_775807.2:n.-8C>T
NM_173536.4:c.-8C>T MANE Select NP_775807.2:n.-8C>T
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