Canonical Allele Identifier: CA637182982
Gene: N6AMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1406854183
gnomAD v2: 21-30149223-T-C
gnomAD v3: 21-28776901-T-C
gnomAD v4: 21-28776901-T-C
MyVariant Identifiers: chr21:g.30149223T>C (hg19) chr21:g.28776901T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.28776901T>C , CM000683.2:g.28776901T>C GRCh38
NC_000021.8:g.30149223T>C , CM000683.1:g.30149223T>C GRCh37
NC_000021.7:g.29071094T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754830.1:n.934+45004A>G
XR_002958591.1:n.4507-4763A>G
Search 100 bp 5'
Search 100 bp 3'