Canonical Allele Identifier: CA4651645
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs79050330
ExAC: 8:18258091 C / T
gnomAD v2: 8-18258091-C-T
gnomAD v3: 8-18400581-C-T
gnomAD v4: 8-18400581-C-T
COSMIC: COSM3898587
MyVariant Identifiers: chr8:g.18258091C>T (hg19) chr8:g.18400581C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400581C>T , CM000670.2:g.18400581C>T GRCh38
NC_000008.10:g.18258091C>T , CM000670.1:g.18258091C>T GRCh37
NC_000008.9:g.18302371C>T NCBI36
NG_012246.1:g.14337C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.578C>T MANE Select ENSP00000286479.3:p.Thr193Met
ENST00000286479.3:c.578C>T ENSP00000286479.3:p.Thr193Met
ENST00000520116.1:c.188C>T ENSP00000428416.1:p.Thr63Met
NM_000015.2:c.578C>T NP_000006.2:p.Thr193Met
XM_011544358.1:c.578C>T XP_011542660.1:p.Thr193Met
XM_017012938.1:c.578C>T XP_016868427.1:p.Thr193Met
NM_000015.3:c.578C>T MANE Select NP_000006.2:p.Thr193Met
Search 100 bp 5'
Search 100 bp 3'