Canonical Allele Identifier: CA3523775
Gene: GLRA1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.151892401C>T
GRCh37 chr5:g.151271962C>T
Revel Score:
ENST00000274576 (MANE Select) 0.145
ENST00000455880 0.145
gnomAD v2:
5:151271962 C / T
gnomAD v3:
5:151892401 C / T
gnomAD v4:
chr5-151892401-C-T
Joint Max Group AF 0.0001336 (MID)
Genomes Max Group AF 0.0000192 (AFR)
Exomes Max Group AF 0.0001414 (MID)
ClinVar RCV:
RCV000308500
RCV001473321
ClinVar Variation:
352322
dbSNP:
779993828
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151892401C>T , CM000667.2:g.151892401C>T GRCh38
NC_000005.9:g.151271962C>T , CM000667.1:g.151271962C>T GRCh37
NC_000005.8:g.151252155C>T NCBI36
NG_011764.1:g.37436G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.94G>A MANE Select ENSP00000274576.5:p.Ala32Thr
ENST00000274576.8:c.94G>A ENSP00000274576.4:p.Ala32Thr
ENST00000455880.2:c.94G>A ENSP00000411593.2:p.Ala32Thr
ENST00000462581.6:c.57-5613G>A ENSP00000430595.1:n.57-5613G>A
ENST00000471351.2:n.377G>A
NM_000171.3:c.94G>A NP_000162.2:p.Ala32Thr
NM_001146040.1:c.94G>A NP_001139512.1:p.Ala32Thr
NM_001292000.1:c.-65-5613G>A NP_001278929.1:n.-65-5613G>A
XM_005268412.2:c.94G>A XP_005268469.1:p.Ala32Thr
NM_000171.4:c.94G>A MANE Select NP_000162.2:p.Ala32Thr
NM_001146040.2:c.94G>A NP_001139512.1:p.Ala32Thr
NM_001292000.2:c.-65-5613G>A NP_001278929.1:n.-65-5613G>A
Search 100 bp 5'
Search 100 bp 3'