Canonical Allele Identifier: CA4651546
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs765487420
ExAC: 8:18257592 A / C
gnomAD v2: 8-18257592-A-C
gnomAD v4: 8-18400082-A-C
MyVariant Identifiers: chr8:g.18257592A>C (hg19) chr8:g.18400082A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400082A>C , CM000670.2:g.18400082A>C GRCh38
NC_000008.10:g.18257592A>C , CM000670.1:g.18257592A>C GRCh37
NC_000008.9:g.18301872A>C NCBI36
NG_012246.1:g.13838A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.79A>C MANE Select ENSP00000286479.3:p.Ile27Leu
ENST00000286479.3:c.79A>C ENSP00000286479.3:p.Ile27Leu
ENST00000520116.1:c.-57-255A>C ENSP00000428416.1:n.-57-255A>C
NM_000015.2:c.79A>C NP_000006.2:p.Ile27Leu
XM_011544358.1:c.79A>C XP_011542660.1:p.Ile27Leu
XM_017012938.1:c.79A>C XP_016868427.1:p.Ile27Leu
NM_000015.3:c.79A>C MANE Select NP_000006.2:p.Ile27Leu
Search 100 bp 5'
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