Canonical Allele Identifier: CA1261057100
Gene: NAT8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640988T= , CM000664.2:g.73640988T= GRCh38
NC_000002.11:g.73868115T= , CM000664.1:g.73868115T= GRCh37
NC_000002.10:g.73721623T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.641A= MANE Select ENSP00000272425.3:p.His214=
ENST00000272425.3:c.641A= ENSP00000272425.3:p.His214=
NM_003960.3:c.641A= NP_003951.3:p.His214=
NM_003960.4:c.641A= MANE Select NP_003951.3:p.His214=
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