Canonical Allele Identifier: CA370635425
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400226-C-A
MyVariant Identifiers: chr8:g.18257736C>A (hg19) chr8:g.18400226C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400226C>A , CM000670.2:g.18400226C>A GRCh38
NC_000008.10:g.18257736C>A , CM000670.1:g.18257736C>A GRCh37
NC_000008.9:g.18302016C>A NCBI36
NG_012246.1:g.13982C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.223C>A MANE Select ENSP00000286479.3:p.Leu75Met
ENST00000286479.3:c.223C>A ENSP00000286479.3:p.Leu75Met
ENST00000520116.1:c.-57-111C>A ENSP00000428416.1:n.-57-111C>A
NM_000015.2:c.223C>A NP_000006.2:p.Leu75Met
XM_011544358.1:c.223C>A XP_011542660.1:p.Leu75Met
XM_017012938.1:c.223C>A XP_016868427.1:p.Leu75Met
NM_000015.3:c.223C>A MANE Select NP_000006.2:p.Leu75Met
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