Canonical Allele Identifier: CA257409
Gene: GLRA1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.151856337T>C
GRCh37 chr5:g.151235898T>C
Revel Score:
ENST00000274576 (MANE Select) 0.921
ENST00000455880 0.921
ENST00000545569 0.921
gnomAD v2:
5:151235898 T / C
gnomAD v3:
5:151856337 T / C
gnomAD v4:
chr5-151856337-T-C
Joint Max Group AF 0.00002316 (NFE)
Exomes Max Group AF 0.00002373 (NFE)
ClinVar RCV:
RCV000017446
RCV001328517
ClinVar Variation:
16068
dbSNP:
121918414
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151856337T>C , CM000667.2:g.151856337T>C GRCh38
NC_000005.9:g.151235898T>C , CM000667.1:g.151235898T>C GRCh37
NC_000005.8:g.151216091T>C NCBI36
NG_011764.1:g.73500A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.523A>G MANE Select ENSP00000274576.5:p.Met175Val
ENST00000274576.8:c.523A>G ENSP00000274576.4:p.Met175Val
ENST00000455880.2:c.523A>G ENSP00000411593.2:p.Met175Val
ENST00000462581.6:c.*281A>G ENSP00000430595.1:n.*281A>G
ENST00000471351.2:n.806A>G
NM_000171.3:c.523A>G NP_000162.2:p.Met175Val
NM_001146040.1:c.523A>G NP_001139512.1:p.Met175Val
NM_001292000.1:c.274A>G NP_001278929.1:p.Met92Val
XM_005268412.2:c.523A>G XP_005268469.1:p.Met175Val
XR_002956230.1:n.42-1369T>C
NM_000171.4:c.523A>G MANE Select NP_000162.2:p.Met175Val
NM_001146040.2:c.523A>G NP_001139512.1:p.Met175Val
NM_001292000.2:c.274A>G NP_001278929.1:p.Met92Val
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