Canonical Allele Identifier: CA130010070
Gene: GLRA1 HGNC NCBI

Linked Data

dbSNP Id: rs200218897

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151828959C>G , CM000667.2:g.151828959C>G GRCh38
NC_000005.9:g.151208520C>G , CM000667.1:g.151208520C>G GRCh37
NC_000005.8:g.151188713C>G NCBI36
NG_011764.1:g.100878G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1021G>C MANE Select ENSP00000274576.5:p.Glu341Gln
ENST00000274576.8:c.1021G>C ENSP00000274576.4:p.Glu341Gln
ENST00000455880.2:c.1021G>C ENSP00000411593.2:p.Glu341Gln
ENST00000462581.6:c.*779G>C ENSP00000430595.1:n.*779G>C
NM_000171.3:c.1021G>C NP_000162.2:p.Glu341Gln
NM_001146040.1:c.1021G>C NP_001139512.1:p.Glu341Gln
NM_001292000.1:c.772G>C NP_001278929.1:p.Glu258Gln
NM_000171.4:c.1021G>C MANE Select NP_000162.2:p.Glu341Gln
NM_001146040.2:c.1021G>C NP_001139512.1:p.Glu341Gln
NM_001292000.2:c.772G>C NP_001278929.1:p.Glu258Gln