Canonical Allele Identifier: CA356803569
Gene: GABRG1 HGNC NCBI

Linked Data

COSMIC: COSM5351103
MyVariant Identifiers: chr4:g.46125843G>T (hg19) chr4:g.46123826G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123826G>T , CM000666.2:g.46123826G>T GRCh38
NC_000004.11:g.46125843G>T , CM000666.1:g.46125843G>T GRCh37
NC_000004.10:g.45820600G>T NCBI36
NG_046964.1:g.5240C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.88C>A MANE Select ENSP00000295452.4:p.Leu30Met
ENST00000295452.4:c.88C>A ENSP00000295452.4:p.Leu30Met
NM_173536.3:c.88C>A NP_775807.2:p.Leu30Met
NM_173536.4:c.88C>A MANE Select NP_775807.2:p.Leu30Met
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Search 100 bp 3'