Canonical Allele Identifier: CA319841829
Gene: N6AMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1006756179
gnomAD v3: 21-28768726-T-G
gnomAD v4: 21-28768726-T-G
MyVariant Identifiers: chr21:g.30141048T>G (hg19) chr21:g.28768726T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.28768726T>G , CM000683.2:g.28768726T>G GRCh38
NC_000021.8:g.30141048T>G , CM000683.1:g.30141048T>G GRCh37
NC_000021.7:g.29062919T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754830.1:n.934+53179A>C
XR_002958591.1:n.4651+3268A>C
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