Canonical Allele Identifier: CA1715639
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs777241291
ExAC: 2:73868115 T / C
gnomAD v2: 2-73868115-T-C
gnomAD v4: 2-73640988-T-C
MyVariant Identifiers: chr2:g.73868115T>C (hg19) chr2:g.73640988T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640988T>C , CM000664.2:g.73640988T>C GRCh38
NC_000002.11:g.73868115T>C , CM000664.1:g.73868115T>C GRCh37
NC_000002.10:g.73721623T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.641A>G MANE Select ENSP00000272425.3:p.His214Arg
ENST00000272425.3:c.641A>G ENSP00000272425.3:p.His214Arg
NM_003960.3:c.641A>G NP_003951.3:p.His214Arg
NM_003960.4:c.641A>G MANE Select NP_003951.3:p.His214Arg
Search 100 bp 5'
Search 100 bp 3'