Canonical Allele Identifier: CA319177590
Gene: N6AMT1 HGNC NCBI

Linked Data

dbSNP Id: rs965382740
gnomAD v3: 21-28776676-C-T
gnomAD v4: 21-28776676-C-T
MyVariant Identifiers: chr21:g.30148998C>T (hg19) chr21:g.28776676C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.28776676C>T , CM000683.2:g.28776676C>T GRCh38
NC_000021.8:g.30148998C>T , CM000683.1:g.30148998C>T GRCh37
NC_000021.7:g.29070869C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754830.1:n.934+45229G>A
XR_002958591.1:n.4507-4538G>A
Search 100 bp 5'
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