Canonical Allele Identifier: CA16603330
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377302
ClinVar RCV Id: RCV000437193
dbSNP Id: rs1057520186
MyVariant Identifiers: chr5:g.151239449C>T (hg19) chr5:g.151859888C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151859888C>T , CM000667.2:g.151859888C>T GRCh38
NC_000005.9:g.151239449C>T , CM000667.1:g.151239449C>T GRCh37
NC_000005.8:g.151219642C>T NCBI36
NG_011764.1:g.69949G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.373G>A MANE Select ENSP00000274576.5:p.Asp125Asn
ENST00000274576.8:c.373G>A ENSP00000274576.4:p.Asp125Asn
ENST00000455880.2:c.373G>A ENSP00000411593.2:p.Asp125Asn
ENST00000462581.6:c.*131G>A ENSP00000430595.1:n.*131G>A
ENST00000471351.2:n.656G>A
NM_000171.3:c.373G>A NP_000162.2:p.Asp125Asn
NM_001146040.1:c.373G>A NP_001139512.1:p.Asp125Asn
NM_001292000.1:c.124G>A NP_001278929.1:p.Asp42Asn
XM_005268412.2:c.373G>A XP_005268469.1:p.Asp125Asn
XR_002956230.1:n.229+1995C>T
NM_000171.4:c.373G>A MANE Select NP_000162.2:p.Asp125Asn
NM_001146040.2:c.373G>A NP_001139512.1:p.Asp125Asn
NM_001292000.2:c.124G>A NP_001278929.1:p.Asp42Asn
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