Canonical Allele Identifier: CA427024296
Gene: NAT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868117A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640990A>G , CM000664.2:g.73640990A>G GRCh38
NC_000002.11:g.73868117A>G , CM000664.1:g.73868117A>G GRCh37
NC_000002.10:g.73721625A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.639T>C MANE Select ENSP00000272425.3:p.Val213=
ENST00000272425.3:c.639T>C ENSP00000272425.3:p.Val213=
NM_003960.3:c.639T>C NP_003951.3:p.Val213=
NM_003960.4:c.639T>C MANE Select NP_003951.3:p.Val213=