Canonical Allele Identifier: CA2670516190
Gene: GABRG1 HGNC NCBI

Linked Data

gnomAD v4: 4-46123771-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123771G>C , CM000666.2:g.46123771G>C GRCh38
NC_000004.11:g.46125788G>C , CM000666.1:g.46125788G>C GRCh37
NC_000004.10:g.45820545G>C NCBI36
NG_046964.1:g.5295C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+39C>G MANE Select ENSP00000295452.4:n.104+39C>G
ENST00000295452.4:c.104+39C>G ENSP00000295452.4:n.104+39C>G
NM_173536.3:c.104+39C>G NP_775807.2:n.104+39C>G
NM_173536.4:c.104+39C>G MANE Select NP_775807.2:n.104+39C>G
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