Canonical Allele Identifier: CA637182980
Gene: N6AMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1467135930
gnomAD v2: 21-30149167-C-G
gnomAD v3: 21-28776845-C-G
gnomAD v4: 21-28776845-C-G
MyVariant Identifiers: chr21:g.30149167C>G (hg19) chr21:g.28776845C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.28776845C>G , CM000683.2:g.28776845C>G GRCh38
NC_000021.8:g.30149167C>G , CM000683.1:g.30149167C>G GRCh37
NC_000021.7:g.29071038C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754830.1:n.934+45060G>C
XR_002958591.1:n.4507-4707G>C
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