Canonical Allele Identifier: CA341365
Gene: GLRA1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.151851420C>G
GRCh37 chr5:g.151230981C>G
Revel Score:
ENST00000274576 (MANE Select) 0.862
ENST00000455880 0.862
ENST00000545569 0.862
ClinVar RCV:
RCV000017442
ClinVar Variation:
16064
dbSNP:
121918411
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851420C>G , CM000667.2:g.151851420C>G GRCh38
NC_000005.9:g.151230981C>G , CM000667.1:g.151230981C>G GRCh37
NC_000005.8:g.151211174C>G NCBI36
NG_011764.1:g.78417G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.882G>C MANE Select ENSP00000274576.5:p.Gln294His
ENST00000274576.8:c.882G>C ENSP00000274576.4:p.Gln294His
ENST00000455880.2:c.882G>C ENSP00000411593.2:p.Gln294His
ENST00000462581.6:c.*640G>C ENSP00000430595.1:n.*640G>C
ENST00000471351.2:n.1165G>C
NM_000171.3:c.882G>C NP_000162.2:p.Gln294His
NM_001146040.1:c.882G>C NP_001139512.1:p.Gln294His
NM_001292000.1:c.633G>C NP_001278929.1:p.Gln211His
XM_005268412.2:c.882G>C XP_005268469.1:p.Gln294His
NM_000171.4:c.882G>C MANE Select NP_000162.2:p.Gln294His
NM_001146040.2:c.882G>C NP_001139512.1:p.Gln294His
NM_001292000.2:c.633G>C NP_001278929.1:p.Gln211His
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