Canonical Allele Identifier: CA347286294
Gene: NAT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868137G>C (hg19) chr2:g.73641010G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641010G>C , CM000664.2:g.73641010G>C GRCh38
NC_000002.11:g.73868137G>C , CM000664.1:g.73868137G>C GRCh37
NC_000002.10:g.73721645G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.619C>G MANE Select ENSP00000272425.3:p.Leu207Val
ENST00000272425.3:c.619C>G ENSP00000272425.3:p.Leu207Val
NM_003960.3:c.619C>G NP_003951.3:p.Leu207Val
NM_003960.4:c.619C>G MANE Select NP_003951.3:p.Leu207Val
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