Canonical Allele Identifier: CA1715663
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs764421364
ExAC: 2:73868197 G / C
MyVariant Identifiers: chr2:g.73868197G>C (hg19) chr2:g.73641070G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641070G>C , CM000664.2:g.73641070G>C GRCh38
NC_000002.11:g.73868197G>C , CM000664.1:g.73868197G>C GRCh37
NC_000002.10:g.73721705G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.559C>G MANE Select ENSP00000272425.3:p.Leu187Val
ENST00000272425.3:c.559C>G ENSP00000272425.3:p.Leu187Val
NM_003960.3:c.559C>G NP_003951.3:p.Leu187Val
NM_003960.4:c.559C>G MANE Select NP_003951.3:p.Leu187Val
Search 100 bp 5'
Search 100 bp 3'