Canonical Allele Identifier: CA12286646
Gene: GMDS-DT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.2355441C>T
GRCh37 chr6:g.2355675C>T
gnomAD v2:
6:2355675 C / T
gnomAD v3:
6:2355441 C / T
gnomAD v4:
chr6-2355441-C-T
Joint Max Group AF 0.5582047 (EAS)
Genomes Max Group AF 0.5582047 (EAS)
dbSNP:
2505675
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355441C>T , CM000668.2:g.2355441C>T GRCh38
NC_000006.11:g.2355675C>T , CM000668.1:g.2355675C>T GRCh37
NC_000006.10:g.2300674C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26109C>T
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