Canonical Allele Identifier: CA565198519
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs1335414920
gnomAD v2: 6-2355544-G-A
gnomAD v3: 6-2355310-G-A
gnomAD v4: 6-2355310-G-A
MyVariant Identifiers: chr6:g.2355544G>A (hg19) chr6:g.2355310G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355310G>A , CM000668.2:g.2355310G>A GRCh38
NC_000006.11:g.2355544G>A , CM000668.1:g.2355544G>A GRCh37
NC_000006.10:g.2300543G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+25978G>A
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