Canonical Allele Identifier: CA427024270
Gene: NAT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868099G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640972G>T , CM000664.2:g.73640972G>T GRCh38
NC_000002.11:g.73868099G>T , CM000664.1:g.73868099G>T GRCh37
NC_000002.10:g.73721607G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.657C>A MANE Select ENSP00000272425.3:p.Leu219=
ENST00000272425.3:c.657C>A ENSP00000272425.3:p.Leu219=
NM_003960.3:c.657C>A NP_003951.3:p.Leu219=
NM_003960.4:c.657C>A MANE Select NP_003951.3:p.Leu219=