Canonical Allele Identifier: CA319177626

Gene: N6AMT1

Linked Data

• dbSNP Id: rs530286046
• gnomAD v2: 21-30149087-T-A
• gnomAD v3: 21-28776765-T-A
• gnomAD v4: 21-28776765-T-A
• MyVariant Identifiers: chr21:g.30149087T>A (hg19) ; chr21:g.28776765T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.28776765T>A , CM000683.2:g.28776765T>A	GRCh38
NC_000021.8:g.30149087T>A , CM000683.1:g.30149087T>A	GRCh37
NC_000021.7:g.29070958T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754830.1:n.934+45140A>T
XR_002958591.1:n.4507-4627A>T