Canonical Allele Identifier: CA12364970
Gene: BLOC1S5-TXNDC5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.7911469T>G
GRCh37 chr6:g.7911702T>G
gnomAD v2:
6:7911702 T / G
gnomAD v3:
6:7911469 T / G
gnomAD v4:
chr6-7911469-T-G
Joint Max Group AF 0.51170707 (NFE)
Genomes Max Group AF 0.51170707 (NFE)
dbSNP:
3812162
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7911469T>G , CM000668.2:g.7911469T>G GRCh38
NC_000006.11:g.7911702T>G , CM000668.1:g.7911702T>G GRCh37
NC_000006.10:g.7856701T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000439343.2:c.373-6746A>C ENSP00000454697.1:n.373-6746A>C
NR_037616.1:n.423-6746A>C
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