Canonical Allele Identifier: CA356803628
Gene: GABRG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123836C>G , CM000666.2:g.46123836C>G GRCh38
NC_000004.11:g.46125853C>G , CM000666.1:g.46125853C>G GRCh37
NC_000004.10:g.45820610C>G NCBI36
NG_046964.1:g.5230G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.78G>C MANE Select ENSP00000295452.4:p.Leu26Phe
ENST00000295452.4:c.78G>C ENSP00000295452.4:p.Leu26Phe
NM_173536.3:c.78G>C NP_775807.2:p.Leu26Phe
NM_173536.4:c.78G>C MANE Select NP_775807.2:p.Leu26Phe