Canonical Allele Identifier: CA370635715
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400362-T-C
MyVariant Identifiers: chr8:g.18257872T>C (hg19) chr8:g.18400362T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400362T>C , CM000670.2:g.18400362T>C GRCh38
NC_000008.10:g.18257872T>C , CM000670.1:g.18257872T>C GRCh37
NC_000008.9:g.18302152T>C NCBI36
NG_012246.1:g.14118T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.359T>C MANE Select ENSP00000286479.3:p.Ile120Thr
ENST00000286479.3:c.359T>C ENSP00000286479.3:p.Ile120Thr
ENST00000520116.1:c.-32T>C ENSP00000428416.1:n.-32T>C
NM_000015.2:c.359T>C NP_000006.2:p.Ile120Thr
XM_011544358.1:c.359T>C XP_011542660.1:p.Ile120Thr
XM_017012938.1:c.359T>C XP_016868427.1:p.Ile120Thr
NM_000015.3:c.359T>C MANE Select NP_000006.2:p.Ile120Thr
Search 100 bp 5'
Search 100 bp 3'