Canonical Allele Identifier: CA319177502

Gene: N6AMT1

Linked Data

• dbSNP Id: rs551171348
• gnomAD v3: 21-28776575-C-T
• gnomAD v4: 21-28776575-C-T
• MyVariant Identifiers: chr21:g.30148897C>T (hg19) ; chr21:g.28776575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.28776575C>T , CM000683.2:g.28776575C>T	GRCh38
NC_000021.8:g.30148897C>T , CM000683.1:g.30148897C>T	GRCh37
NC_000021.7:g.29070768C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001754830.1:n.934+45330G>A
XR_002958591.1:n.4507-4437G>A