Canonical Allele Identifier: CA1591565143
Gene: GLRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1763165346
gnomAD v4: 5-151822619-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822619C>G , CM000667.2:g.151822619C>G GRCh38
NC_000005.9:g.151202180C>G , CM000667.1:g.151202180C>G GRCh37
NC_000005.8:g.151182373C>G NCBI36
NG_011764.1:g.107218G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.*54G>C MANE Select ENSP00000274576.5:n.*54G>C
ENST00000274576.8:c.*54G>C ENSP00000274576.4:n.*54G>C
NM_000171.3:c.*54G>C NP_000162.2:n.*54G>C
NM_001146040.1:c.*54G>C NP_001139512.1:n.*54G>C
NM_001292000.1:c.*54G>C NP_001278929.1:n.*54G>C
NM_000171.4:c.*54G>C MANE Select NP_000162.2:n.*54G>C
NM_001146040.2:c.*54G>C NP_001139512.1:n.*54G>C
NM_001292000.2:c.*54G>C NP_001278929.1:n.*54G>C
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