Canonical Allele Identifier: CA748442661
Gene: N6AMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1374150386
gnomAD v3: 21-28768736-T-G
gnomAD v4: 21-28768736-T-G
MyVariant Identifiers: chr21:g.30141058T>G (hg19) chr21:g.28768736T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.28768736T>G , CM000683.2:g.28768736T>G GRCh38
NC_000021.8:g.30141058T>G , CM000683.1:g.30141058T>G GRCh37
NC_000021.7:g.29062929T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754830.1:n.934+53169A>C
XR_002958591.1:n.4651+3258A>C
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