Canonical Allele Identifier: CA748442666
Gene: N6AMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1358554477
gnomAD v3: 21-28768746-C-A
gnomAD v4: 21-28768746-C-A
MyVariant Identifiers: chr21:g.30141068C>A (hg19) chr21:g.28768746C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.28768746C>A , CM000683.2:g.28768746C>A GRCh38
NC_000021.8:g.30141068C>A , CM000683.1:g.30141068C>A GRCh37
NC_000021.7:g.29062939C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001754830.1:n.934+53159G>T
XR_002958591.1:n.4651+3248G>T
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