Canonical Allele Identifier: CA319177690
Gene: N6AMT1 HGNC NCBI

Linked Data

dbSNP Id: rs574028674
gnomAD v2: 21-30149192-T-C
gnomAD v3: 21-28776870-T-C
gnomAD v4: 21-28776870-T-C
MyVariant Identifiers: chr21:g.30149192T>C (hg19) chr21:g.28776870T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.28776870T>C , CM000683.2:g.28776870T>C GRCh38
NC_000021.8:g.30149192T>C , CM000683.1:g.30149192T>C GRCh37
NC_000021.7:g.29071063T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754830.1:n.934+45035A>G
XR_002958591.1:n.4507-4732A>G
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