Canonical Allele Identifier: CA347286124
Gene: NAT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868111G>T (hg19) chr2:g.73640984G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640984G>T , CM000664.2:g.73640984G>T GRCh38
NC_000002.11:g.73868111G>T , CM000664.1:g.73868111G>T GRCh37
NC_000002.10:g.73721619G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.645C>A MANE Select ENSP00000272425.3:p.Phe215Leu
ENST00000272425.3:c.645C>A ENSP00000272425.3:p.Phe215Leu
NM_003960.3:c.645C>A NP_003951.3:p.Phe215Leu
NM_003960.4:c.645C>A MANE Select NP_003951.3:p.Phe215Leu
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