Canonical Allele Identifier: CA1089106425
Gene: GCLC HGNC NCBI
gnomAD v3:
6:53591884 T / G
gnomAD v4:
chr6-53591884-T-G
Joint Max Group AF 0.00007304 (SAS)
Genomes Max Group AF 0.00007304 (SAS)
dbSNP:
486060
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.53591884T>G , CM000668.2:g.53591884T>G GRCh38
NC_000006.11:g.53456682T>G , CM000668.1:g.53456682T>G GRCh37
NC_000006.10:g.53564641T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000505197.1:c.-454+25002A>C ENSP00000427403.1:n.-454+25002A>C
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