Canonical Allele Identifier: CA823187312
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs1337968184
gnomAD v3: 6-2355713-T-C
gnomAD v4: 6-2355713-T-C
MyVariant Identifiers: chr6:g.2355947T>C (hg19) chr6:g.2355713T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355713T>C , CM000668.2:g.2355713T>C GRCh38
NC_000006.11:g.2355947T>C , CM000668.1:g.2355947T>C GRCh37
NC_000006.10:g.2300946T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26381T>C
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