Canonical Allele Identifier: CA427024321
Gene: NAT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868126A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640999A>C , CM000664.2:g.73640999A>C GRCh38
NC_000002.11:g.73868126A>C , CM000664.1:g.73868126A>C GRCh37
NC_000002.10:g.73721634A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.630T>G MANE Select ENSP00000272425.3:p.Leu210=
ENST00000272425.3:c.630T>G ENSP00000272425.3:p.Leu210=
NM_003960.3:c.630T>G NP_003951.3:p.Leu210=
NM_003960.4:c.630T>G MANE Select NP_003951.3:p.Leu210=