Canonical Allele Identifier: CA1061866155
Gene: GABRG1 HGNC NCBI

Linked Data

gnomAD v3: 4-46085730-G-A
gnomAD v4: 4-46085730-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46085730G>A , CM000666.2:g.46085730G>A GRCh38
NC_000004.11:g.46087747G>A , CM000666.1:g.46087747G>A GRCh37
NC_000004.10:g.45782504G>A NCBI36
NG_046964.1:g.43336C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295452.5:c.254-1677C>T MANE Select ENSP00000295452.4:n.254-1677C>T
ENST00000295452.4:c.254-1677C>T ENSP00000295452.4:n.254-1677C>T
NM_173536.3:c.254-1677C>T NP_775807.2:n.254-1677C>T
NM_173536.4:c.254-1677C>T MANE Select NP_775807.2:n.254-1677C>T
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