Canonical Allele Identifier: CA795333221
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1217003608
gnomAD v3: 4-46123589-G-A
gnomAD v4: 4-46123589-G-A
MyVariant Identifiers: chr4:g.46125606G>A (hg19) chr4:g.46123589G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123589G>A , CM000666.2:g.46123589G>A GRCh38
NC_000004.11:g.46125606G>A , CM000666.1:g.46125606G>A GRCh37
NC_000004.10:g.45820363G>A NCBI36
NG_046964.1:g.5477C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+221C>T MANE Select ENSP00000295452.4:n.104+221C>T
ENST00000295452.4:c.104+221C>T ENSP00000295452.4:n.104+221C>T
NM_173536.3:c.104+221C>T NP_775807.2:n.104+221C>T
NM_173536.4:c.104+221C>T MANE Select NP_775807.2:n.104+221C>T
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