Canonical Allele Identifier: CA370635440
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400232-T-C
MyVariant Identifiers: chr8:g.18257742T>C (hg19) chr8:g.18400232T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400232T>C , CM000670.2:g.18400232T>C GRCh38
NC_000008.10:g.18257742T>C , CM000670.1:g.18257742T>C GRCh37
NC_000008.9:g.18302022T>C NCBI36
NG_012246.1:g.13988T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.229T>C MANE Select ENSP00000286479.3:p.Trp77Arg
ENST00000286479.3:c.229T>C ENSP00000286479.3:p.Trp77Arg
ENST00000520116.1:c.-57-105T>C ENSP00000428416.1:n.-57-105T>C
NM_000015.2:c.229T>C NP_000006.2:p.Trp77Arg
XM_011544358.1:c.229T>C XP_011542660.1:p.Trp77Arg
XM_017012938.1:c.229T>C XP_016868427.1:p.Trp77Arg
NM_000015.3:c.229T>C MANE Select NP_000006.2:p.Trp77Arg
Search 100 bp 5'
Search 100 bp 3'