Canonical Allele Identifier: CA361850367
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1015324
ClinVar RCV Id: RCV001314171
dbSNP Id: rs1379750212
gnomAD v2: 5-151202515-C-T
gnomAD v3: 5-151822954-C-T
gnomAD v4: 5-151822954-C-T
MyVariant Identifiers: chr5:g.151202515C>T (hg19) chr5:g.151822954C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822954C>T , CM000667.2:g.151822954C>T GRCh38
NC_000005.9:g.151202515C>T , CM000667.1:g.151202515C>T GRCh37
NC_000005.8:g.151182708C>T NCBI36
NG_011764.1:g.106883G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1069G>A MANE Select ENSP00000274576.5:p.Ala357Thr
ENST00000274576.8:c.1069G>A ENSP00000274576.4:p.Ala357Thr
ENST00000455880.2:c.1093G>A ENSP00000411593.2:p.Ala365Thr
ENST00000462581.6:c.*827G>A ENSP00000430595.1:n.*827G>A
NM_000171.3:c.1069G>A NP_000162.2:p.Ala357Thr
NM_001146040.1:c.1093G>A NP_001139512.1:p.Ala365Thr
NM_001292000.1:c.820G>A NP_001278929.1:p.Ala274Thr
NM_000171.4:c.1069G>A MANE Select NP_000162.2:p.Ala357Thr
NM_001146040.2:c.1093G>A NP_001139512.1:p.Ala365Thr
NM_001292000.2:c.820G>A NP_001278929.1:p.Ala274Thr
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