Canonical Allele Identifier: CA3523476
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2904264
ClinVar RCV Id: RCV003764320
dbSNP Id: rs760703064
ExAC: 5:151202355 T / G
gnomAD v2: 5-151202355-T-G
gnomAD v3: 5-151822794-T-G
gnomAD v4: 5-151822794-T-G
MyVariant Identifiers: chr5:g.151202355T>G (hg19) chr5:g.151822794T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822794T>G , CM000667.2:g.151822794T>G GRCh38
NC_000005.9:g.151202355T>G , CM000667.1:g.151202355T>G GRCh37
NC_000005.8:g.151182548T>G NCBI36
NG_011764.1:g.107043A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1229A>C MANE Select ENSP00000274576.5:p.Gln410Pro
ENST00000274576.8:c.1229A>C ENSP00000274576.4:p.Gln410Pro
ENST00000455880.2:c.1253A>C ENSP00000411593.2:p.Gln418Pro
ENST00000462581.6:c.*987A>C ENSP00000430595.1:n.*987A>C
NM_000171.3:c.1229A>C NP_000162.2:p.Gln410Pro
NM_001146040.1:c.1253A>C NP_001139512.1:p.Gln418Pro
NM_001292000.1:c.980A>C NP_001278929.1:p.Gln327Pro
NM_000171.4:c.1229A>C MANE Select NP_000162.2:p.Gln410Pro
NM_001146040.2:c.1253A>C NP_001139512.1:p.Gln418Pro
NM_001292000.2:c.980A>C NP_001278929.1:p.Gln327Pro
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