Canonical Allele Identifier: CA342947
Gene: GLRA1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.151822915C>T
GRCh37 chr5:g.151202476C>T
Revel Score:
ENST00000274576 (MANE Select) 0.243
ENST00000455880 0.243
ENST00000545569 0.243
gnomAD v2:
5:151202476 C / T
gnomAD v3:
5:151822915 C / T
gnomAD v4:
chr5-151822915-C-T
Joint Max Group AF 0.02368246 (MID)
Genomes Max Group AF 0.01404681 (NFE)
Exomes Max Group AF 0.02440336 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822915C>T , CM000667.2:g.151822915C>T GRCh38
NC_000005.9:g.151202476C>T , CM000667.1:g.151202476C>T GRCh37
NC_000005.8:g.151182669C>T NCBI36
NG_011764.1:g.106922G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1108G>A MANE Select ENSP00000274576.5:p.Gly370Ser
ENST00000274576.8:c.1108G>A ENSP00000274576.4:p.Gly370Ser
ENST00000455880.2:c.1132G>A ENSP00000411593.2:p.Gly378Ser
ENST00000462581.6:c.*866G>A ENSP00000430595.1:n.*866G>A
NM_000171.3:c.1108G>A NP_000162.2:p.Gly370Ser
NM_001146040.1:c.1132G>A NP_001139512.1:p.Gly378Ser
NM_001292000.1:c.859G>A NP_001278929.1:p.Gly287Ser
NM_000171.4:c.1108G>A MANE Select NP_000162.2:p.Gly370Ser
NM_001146040.2:c.1132G>A NP_001139512.1:p.Gly378Ser
NM_001292000.2:c.859G>A NP_001278929.1:p.Gly287Ser
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