Canonical Allele Identifier: CA427024244
Gene: NAT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868077G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640950G>A , CM000664.2:g.73640950G>A GRCh38
NC_000002.11:g.73868077G>A , CM000664.1:g.73868077G>A GRCh37
NC_000002.10:g.73721585G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.679C>T MANE Select ENSP00000272425.3:p.Leu227=
ENST00000272425.3:c.679C>T ENSP00000272425.3:p.Leu227=
NM_003960.3:c.679C>T NP_003951.3:p.Leu227=
NM_003960.4:c.679C>T MANE Select NP_003951.3:p.Leu227=