Canonical Allele Identifier: CA319177565
Gene: N6AMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1031598243
gnomAD v3: 21-28776672-G-A
gnomAD v4: 21-28776672-G-A
MyVariant Identifiers: chr21:g.30148994G>A (hg19) chr21:g.28776672G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.28776672G>A , CM000683.2:g.28776672G>A GRCh38
NC_000021.8:g.30148994G>A , CM000683.1:g.30148994G>A GRCh37
NC_000021.7:g.29070865G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754830.1:n.934+45233C>T
XR_002958591.1:n.4507-4534C>T
Search 100 bp 5'
Search 100 bp 3'