Canonical Allele Identifier: CA3523519
Gene: GLRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1554081981
ExAC: 5:151202542 T / C
gnomAD v2: 5-151202542-T-C
gnomAD v4: 5-151822981-T-C
MyVariant Identifiers: chr5:g.151202542T>C (hg19) chr5:g.151202542_151202545delinsCGGG (hg19) chr5:g.151822981T>C (hg38) chr5:g.151822981_151822984delinsCGGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822981T>C , CM000667.2:g.151822981T>C GRCh38
NC_000005.9:g.151202542T>C , CM000667.1:g.151202542T>C GRCh37
NC_000005.8:g.151182735T>C NCBI36
NG_011764.1:g.106856A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1060-18A>G MANE Select ENSP00000274576.5:n.1060-18A>G
ENST00000274576.8:c.1060-18A>G ENSP00000274576.4:n.1060-18A>G
ENST00000455880.2:c.1066A>G ENSP00000411593.2:p.Met356Val
ENST00000462581.6:c.*818-18A>G ENSP00000430595.1:n.*818-18A>G
NM_000171.3:c.1060-18A>G NP_000162.2:n.1060-18A>G
NM_001146040.1:c.1066A>G NP_001139512.1:p.Met356Val
NM_001292000.1:c.811-18A>G NP_001278929.1:n.811-18A>G
NM_000171.4:c.1060-18A>G MANE Select NP_000162.2:n.1060-18A>G
NM_001146040.2:c.1066A>G NP_001139512.1:p.Met356Val
NM_001292000.2:c.811-18A>G NP_001278929.1:n.811-18A>G
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