Canonical Allele Identifier: CA2578078359
Gene: GABRG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123758G>T , CM000666.2:g.46123758G>T GRCh38
NC_000004.11:g.46125775G>T , CM000666.1:g.46125775G>T GRCh37
NC_000004.10:g.45820532G>T NCBI36
NG_046964.1:g.5308C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+52C>A MANE Select ENSP00000295452.4:n.104+52C>A
ENST00000295452.4:c.104+52C>A ENSP00000295452.4:n.104+52C>A
NM_173536.3:c.104+52C>A NP_775807.2:n.104+52C>A
NM_173536.4:c.104+52C>A MANE Select NP_775807.2:n.104+52C>A
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