Canonical Allele Identifier: CA361838078
Gene: GLRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851561C>G , CM000667.2:g.151851561C>G GRCh38
NC_000005.9:g.151231122C>G , CM000667.1:g.151231122C>G GRCh37
NC_000005.8:g.151211315C>G NCBI36
NG_011764.1:g.78276G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.741G>C MANE Select ENSP00000274576.5:p.Gln247His
ENST00000274576.8:c.741G>C ENSP00000274576.4:p.Gln247His
ENST00000455880.2:c.741G>C ENSP00000411593.2:p.Gln247His
ENST00000462581.6:c.*499G>C ENSP00000430595.1:n.*499G>C
ENST00000471351.2:n.1024G>C
NM_000171.3:c.741G>C NP_000162.2:p.Gln247His
NM_001146040.1:c.741G>C NP_001139512.1:p.Gln247His
NM_001292000.1:c.492G>C NP_001278929.1:p.Gln164His
XM_005268412.2:c.741G>C XP_005268469.1:p.Gln247His
NM_000171.4:c.741G>C MANE Select NP_000162.2:p.Gln247His
NM_001146040.2:c.741G>C NP_001139512.1:p.Gln247His
NM_001292000.2:c.492G>C NP_001278929.1:p.Gln164His