Canonical Allele Identifier: CA356803978
Gene: GABRG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123906G>C , CM000666.2:g.46123906G>C GRCh38
NC_000004.11:g.46125923G>C , CM000666.1:g.46125923G>C GRCh37
NC_000004.10:g.45820680G>C NCBI36
NG_046964.1:g.5160C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.8C>G MANE Select ENSP00000295452.4:p.Pro3Arg
ENST00000295452.4:c.8C>G ENSP00000295452.4:p.Pro3Arg
NM_173536.3:c.8C>G NP_775807.2:p.Pro3Arg
NM_173536.4:c.8C>G MANE Select NP_775807.2:p.Pro3Arg