Canonical Allele Identifier: CA341361
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16062
ClinVar RCV Id: RCV000017440
dbSNP Id: rs121918409

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851487A>T , CM000667.2:g.151851487A>T GRCh38
NC_000005.9:g.151231048A>T , CM000667.1:g.151231048A>T GRCh37
NC_000005.8:g.151211241A>T NCBI36
NG_011764.1:g.78350T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.815T>A MANE Select ENSP00000274576.5:p.Ile272Asn
ENST00000274576.8:c.815T>A ENSP00000274576.4:p.Ile272Asn
ENST00000455880.2:c.815T>A ENSP00000411593.2:p.Ile272Asn
ENST00000462581.6:c.*573T>A ENSP00000430595.1:n.*573T>A
ENST00000471351.2:n.1098T>A
NM_000171.3:c.815T>A NP_000162.2:p.Ile272Asn
NM_001146040.1:c.815T>A NP_001139512.1:p.Ile272Asn
NM_001292000.1:c.566T>A NP_001278929.1:p.Ile189Asn
XM_005268412.2:c.815T>A XP_005268469.1:p.Ile272Asn
NM_000171.4:c.815T>A MANE Select NP_000162.2:p.Ile272Asn
NM_001146040.2:c.815T>A NP_001139512.1:p.Ile272Asn
NM_001292000.2:c.566T>A NP_001278929.1:p.Ile189Asn