Canonical Allele Identifier: CA2573139267
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1593157
ClinVar RCV Id: RCV002112662
dbSNP Id: rs2113290193

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151829073dup , CM000667.2:g.151829073dup GRCh38
NC_000005.9:g.151208634dup , CM000667.1:g.151208634dup GRCh37
NC_000005.8:g.151188827dup NCBI36
NG_011764.1:g.100764dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.913-6dup MANE Select ENSP00000274576.5:n.913-6dup
ENST00000274576.8:c.913-6dup ENSP00000274576.4:n.913-6dup
ENST00000455880.2:c.913-6dup ENSP00000411593.2:n.913-6dup
ENST00000462581.6:c.*671-6dup ENSP00000430595.1:n.*671-6dup
NM_000171.3:c.913-6dup NP_000162.2:n.913-6dup
NM_001146040.1:c.913-6dup NP_001139512.1:n.913-6dup
NM_001292000.1:c.664-6dup NP_001278929.1:n.664-6dup
NM_000171.4:c.913-6dup MANE Select NP_000162.2:n.913-6dup
NM_001146040.2:c.913-6dup NP_001139512.1:n.913-6dup
NM_001292000.2:c.664-6dup NP_001278929.1:n.664-6dup