Canonical Allele Identifier: CA15462221
Gene: BLOC1S5-TXNDC5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.8000884A>G
GRCh37 chr6:g.8001117A>G
gnomAD v2:
6:8001117 A / G
gnomAD v3:
6:8000884 A / G
gnomAD v4:
chr6-8000884-A-G
Joint Max Group AF 0.24441169 (AFR)
Genomes Max Group AF 0.24441169 (AFR)
dbSNP:
9328448
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8000884A>G , CM000668.2:g.8000884A>G GRCh38
NC_000006.11:g.8001117A>G , CM000668.1:g.8001117A>G GRCh37
NC_000006.10:g.7946116A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000439343.2:c.372+25483T>C ENSP00000454697.1:n.372+25483T>C
NR_037616.1:n.422+25483T>C
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