Canonical Allele Identifier: CA14914565

Gene: N6AMT1

Linked Data

• dbSNP Id: rs139470477
• gnomAD v2: 21-30149022-G-C
• gnomAD v3: 21-28776700-G-C
• gnomAD v4: 21-28776700-G-C
• MyVariant Identifiers: chr21:g.30149022G>C (hg19) ; chr21:g.28776700G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.28776700G>C , CM000683.2:g.28776700G>C	GRCh38
NC_000021.8:g.30149022G>C , CM000683.1:g.30149022G>C	GRCh37
NC_000021.7:g.29070893G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754830.1:n.934+45205C>G
XR_002958591.1:n.4507-4562C>G