Canonical Allele Identifier: CA370636046
Gene: NAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.18258025C>A (hg19) chr8:g.18400515C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400515C>A , CM000670.2:g.18400515C>A GRCh38
NC_000008.10:g.18258025C>A , CM000670.1:g.18258025C>A GRCh37
NC_000008.9:g.18302305C>A NCBI36
NG_012246.1:g.14271C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.512C>A MANE Select ENSP00000286479.3:p.Thr171Lys
ENST00000286479.3:c.512C>A ENSP00000286479.3:p.Thr171Lys
ENST00000520116.1:c.122C>A ENSP00000428416.1:p.Thr41Lys
NM_000015.2:c.512C>A NP_000006.2:p.Thr171Lys
XM_011544358.1:c.512C>A XP_011542660.1:p.Thr171Lys
XM_017012938.1:c.512C>A XP_016868427.1:p.Thr171Lys
NM_000015.3:c.512C>A MANE Select NP_000006.2:p.Thr171Lys
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