Canonical Allele Identifier: CA427024303
Gene: NAT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868120T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640993T>G , CM000664.2:g.73640993T>G GRCh38
NC_000002.11:g.73868120T>G , CM000664.1:g.73868120T>G GRCh37
NC_000002.10:g.73721628T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.636A>C MANE Select ENSP00000272425.3:p.Thr212=
ENST00000272425.3:c.636A>C ENSP00000272425.3:p.Thr212=
NM_003960.3:c.636A>C NP_003951.3:p.Thr212=
NM_003960.4:c.636A>C MANE Select NP_003951.3:p.Thr212=