Canonical Allele Identifier: CA370635414
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1408322773
gnomAD v2: 8-18257730-C-T
gnomAD v3: 8-18400220-C-T
gnomAD v4: 8-18400220-C-T
MyVariant Identifiers: chr8:g.18257730C>T (hg19) chr8:g.18400220C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400220C>T , CM000670.2:g.18400220C>T GRCh38
NC_000008.10:g.18257730C>T , CM000670.1:g.18257730C>T GRCh37
NC_000008.9:g.18302010C>T NCBI36
NG_012246.1:g.13976C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.217C>T MANE Select ENSP00000286479.3:p.Gln73Ter
ENST00000286479.3:c.217C>T ENSP00000286479.3:p.Gln73Ter
ENST00000520116.1:c.-57-117C>T ENSP00000428416.1:n.-57-117C>T
NM_000015.2:c.217C>T NP_000006.2:p.Gln73Ter
XM_011544358.1:c.217C>T XP_011542660.1:p.Gln73Ter
XM_017012938.1:c.217C>T XP_016868427.1:p.Gln73Ter
NM_000015.3:c.217C>T MANE Select NP_000006.2:p.Gln73Ter
Search 100 bp 5'
Search 100 bp 3'