Canonical Allele Identifier: CA3523804
Gene: GLRA1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.151924500A>G
GRCh37 chr5:g.151304061A>G
Revel Score:
ENST00000274576 (MANE Select) 0.380
ENST00000455880 0.380
gnomAD v2:
5:151304061 A / G
gnomAD v3:
5:151924500 A / G
gnomAD v4:
chr5-151924500-A-G
Joint Max Group AF 0.00010235 (NFE)
Genomes Max Group AF 0.00007908 (NFE)
Exomes Max Group AF 0.00010057 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151924500A>G , CM000667.2:g.151924500A>G GRCh38
NC_000005.9:g.151304061A>G , CM000667.1:g.151304061A>G GRCh37
NC_000005.8:g.151284254A>G NCBI36
NG_011764.1:g.5337T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.50T>C MANE Select ENSP00000274576.5:p.Phe17Ser
ENST00000274576.8:c.50T>C ENSP00000274576.4:p.Phe17Ser
ENST00000455880.2:c.50T>C ENSP00000411593.2:p.Phe17Ser
ENST00000462581.6:c.50T>C ENSP00000430595.1:p.Phe17Ser
ENST00000471351.2:n.333T>C
NM_000171.3:c.50T>C NP_000162.2:p.Phe17Ser
NM_001146040.1:c.50T>C NP_001139512.1:p.Phe17Ser
NM_001292000.1:c.-72T>C NP_001278929.1:n.-72T>C
XM_005268412.2:c.50T>C XP_005268469.1:p.Phe17Ser
NM_000171.4:c.50T>C MANE Select NP_000162.2:p.Phe17Ser
NM_001146040.2:c.50T>C NP_001139512.1:p.Phe17Ser
NM_001292000.2:c.-72T>C NP_001278929.1:n.-72T>C
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